المؤلفون: Harikrishnan S; Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, Kerala, India. Electronic address: drharikrishnan@outlook.com., Koshy L; Centre for Advance Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, Kerala, India., Ganapathi S; Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, Kerala, India., Jeemon P; Achutha Menon Centre for Health Science Studies, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, Kerala, India., Ramya Das NK; Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, Kerala, India., Urulangodi M; Department of Biochemistry, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, Kerala, India., Madhuma M; Centre for Advance Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, Kerala, India., Vysakh Y; Centre for Advance Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, Kerala, India., Subran A; Centre for Advance Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, Kerala, India., Lakshmikanth LR; Centre for Advance Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695 011, Kerala, India.

المصدر: International journal of cardiology [Int J Cardiol] 2024 Sep 15; Vol. 411, pp. 132273. Date of Electronic Publication: 2024 Jun 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathy, Hypertrophic*/genetics , Cardiomyopathy, Hypertrophic*/diagnosis , Exome Sequencing*/methods, Humans ; Male ; Female ; Middle Aged ; Adult ; Genetic Heterogeneity ; Genetic Association Studies/methods ; Mutation ; Cohort Studies ; Exome/genetics ; Genotype ; Carrier Proteins

المؤلفون: Jankowski P; Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, Manitoba, Canada.; JC Wilt Infectious Diseases Research Centre, Public Health Agency of Canada, Winnipeg, Manitoba, Canada., Lee ER; JC Wilt Infectious Diseases Research Centre, Public Health Agency of Canada, Winnipeg, Manitoba, Canada., Embil J; Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, Manitoba, Canada., Keynan Y; Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Community Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., McLaren PJ; Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, Manitoba, Canada.; JC Wilt Infectious Diseases Research Centre, Public Health Agency of Canada, Winnipeg, Manitoba, Canada.

المصدر: Mycoses [Mycoses] 2024 Sep; Vol. 67 (9), pp. e13800.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Grosse Verlag Country of Publication: Germany NLM ID: 8805008 Publication Model: Print Cited Medium: Internet ISSN: 1439-0507 (Electronic) Linking ISSN: 09337407 NLM ISO Abbreviation: Mycoses Subsets: MEDLINE

مواضيع طبية MeSH: Blastomycosis*/genetics , Blastomycosis*/microbiology , Blastomycosis*/epidemiology , Exome Sequencing*, Humans ; Case-Control Studies ; Male ; Female ; Ontario/epidemiology ; Middle Aged ; Manitoba/epidemiology ; Adult ; Genetic Predisposition to Disease ; Aged ; Blastomyces/genetics ; Cohort Studies ; Exome/genetics ; Young Adult

المؤلفون: Ghasemi MR; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Sadeghi H; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Mirfakhraie R; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Gupta V; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Ben-Mahmoud A; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Bagheri S; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Razjouyan K; Psychiatric Department, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Salehpour S; Department of Pediatric Endocrinology & Metabolism, School of Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Tonekaboni SH; Department of Pediatric Neurology, School of Medicine, Pediatric Neurology Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Dianatpour M; Department of Medical Genetics, Faculty of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.; Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Omrani D; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Jang MH; Department of Neurosurgery, Robert Wood Johnson Medical School, The State University of New Jersey, Rutgers, Piscataway, NJ, 08854, USA., Layman LC; Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Augusta University, Augusta, GA, 30912, USA.; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Kim HG; Department of Neurosurgery, Robert Wood Johnson Medical School, The State University of New Jersey, Rutgers, Piscataway, NJ, 08854, USA. hyunggoo.kim@rutgers.edu.

المصدر: BMC medical genomics [BMC Med Genomics] 2024 Aug 05; Vol. 17 (1), pp. 196. Date of Electronic Publication: 2024 Aug 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Consanguinity* , Pedigree* , Exome Sequencing*, Humans ; Iran ; Male ; Female ; Autistic Disorder/genetics ; Child ; Forkhead Transcription Factors/genetics ; Nerve Tissue Proteins/genetics ; Adult ; Syndrome ; Exome/genetics ; Child, Preschool

المؤلفون: Chengyan L; Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People's Republic of China., Chupeng X; Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People's Republic of China.; Department of Pediatrics, Shantou Central Hospital, Shantou, People's Republic of China., You W; Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People's Republic of China., Yinhui C; Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People's Republic of China., Binglong H; Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People's Republic of China., Dang A; Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People's Republic of China., Ling L; Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People's Republic of China., Chuan T; Department of Pediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, People's Republic of China.

المصدر: Clinical genetics [Clin Genet] 2024 Aug; Vol. 106 (2), pp. 140-149. Date of Electronic Publication: 2024 Mar 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Exome Sequencing* , Epilepsy*/genetics , Epilepsy*/diagnosis , Genetic Predisposition to Disease*, Humans ; Male ; Female ; Child ; Child, Preschool ; Infant ; DNA Copy Number Variations/genetics ; Mutation ; Phenotype ; Adolescent ; Genetic Testing ; Genetic Association Studies/methods ; Exome/genetics ; Genotype ; Polymorphism, Single Nucleotide

المؤلفون: Del Pozo-Valero M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Almoallem B; Department of Ophthalmology, College of Medicine, King Saud University (KSU), Riyadh, Saudi Arabia.; Department of Ophthalmology, King Saud University Medical City (KSUMC), Riyadh, Saudi Arabia., Dueñas Rey A; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Mahieu Q; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Van Heetvelde M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Jeddawi L; Pediatric Ophthalmology Division, Dr. Sulaiman AL Habib Medical Group, AL Khobar, Saudi Arabia., Bauwens M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., De Baere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

المصدر: Clinical genetics [Clin Genet] 2024 Aug; Vol. 106 (2), pp. 127-139. Date of Electronic Publication: 2024 Mar 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Exome Sequencing* , Consanguinity* , Pedigree* , Phenotype*, Humans ; Female ; Male ; Retina/pathology ; Homozygote ; Retinal Diseases/genetics ; Protein Isoforms/genetics ; Exome/genetics ; Mutation ; Child ; Genetic Predisposition to Disease ; Leber Congenital Amaurosis/genetics ; Cohort Studies ; Genotype ; Genetic Association Studies/methods

المؤلفون: Faheem A; Department of Biochemistry, Sanquan College of Xinxiang Medical University, Xinxiang, Henan, China., Masud R; Department of Physiology, Rai Medical College, Sargodha, Punjab, Pakistan., Nasir R; Department of Physiology, M. Islam Medical College, Gujranwala, Pakistan., Awan ZK; Department of Pathology, Rawal Institute of Health Sciences, Islamabad, Pakistan., Nasir HA; Department of Paediatrics, Khalida Safdar Memorial Hospital, Rawalpindi, Pakistan.; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan., Khan ZK; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan.; Department of Biochemistry, Shaheed Zulfiqar Ali Bhutto Medical University,, Rawal Institute of Health Sciences, Islamabad, Pakistan., Fayyaz H; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan., Raza SI; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, 45320, Pakistan. siraza.pk@gmail.com.; Department of Biochemistry, HBS Medical College, Islamabad, Pakistan. siraza.pk@gmail.com.

المصدر: Molecular biology reports [Mol Biol Rep] 2024 Jul 26; Vol. 51 (1), pp. 853. Date of Electronic Publication: 2024 Jul 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Dystrophies, Limb-Girdle*/genetics , Exome Sequencing*/methods, Humans ; Male ; Female ; Adult ; Muscle Proteins/genetics ; Pedigree ; Mutation/genetics ; Spinocerebellar Degenerations/genetics ; Child ; Adolescent ; Rho Guanine Nucleotide Exchange Factors/genetics ; Guanine Nucleotide Exchange Factors/genetics ; Young Adult ; Exome/genetics ; Sarcoglycans

المؤلفون: de Feraudy Y; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France.; Department of Pediatric Neurology, CHU Strasbourg, Strasbourg, France.; Centre de Référence Neuromusculaire Nord-Est-Île de France, Strasbourg, France., Vandroux M; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France., Romero NB; Myology Institute, Neuromuscular Morphology Unit, Sorbonne Université, INSERM, GHU Pitié-Salpêtrière, Paris, France., Schneider R; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France., Saker S; Genethon, DNA and Cell Bank, Evry, 91000, France., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, 91057, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Université Paris-Saclay, CEA, Evry, 91057, France., Biancalana V; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France.; Laboratoire de Diagnostic Génétique CHRU de Strasbourg, Strasbourg, 67091, France., Böhm J; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France., Laporte J; IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France. jocelyn@igbmc.fr.

المصدر: Genome medicine [Genome Med] 2024 Jul 09; Vol. 16 (1), pp. 87. Date of Electronic Publication: 2024 Jul 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

مواضيع طبية MeSH: Exome Sequencing* , Phenotype* , Genetic Association Studies*, Humans ; Male ; Female ; Genetic Predisposition to Disease ; Mutation ; Exome/genetics ; Pedigree ; Myopathies, Structural, Congenital/genetics ; Myopathies, Structural, Congenital/diagnosis ; Muscular Diseases/genetics ; Muscular Diseases/diagnosis ; Muscular Diseases/congenital ; Child ; Adult

المؤلفون: Erman B; Institute of Child Health, Hacettepe University, Ankara, Turkey. baranerman@gmail.com.; Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, Turkey. baranerman@gmail.com., Aba U; Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, Turkey.; Department of Pediatric Immunology, Institute of Child Health, Hacettepe University, Ankara, Turkey., Ipsir C; Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, Turkey.; Department of Pediatric Immunology, Institute of Child Health, Hacettepe University, Ankara, Turkey., Pehlivan D; Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, Turkey., Aytekin C; Pediatric Immunology, SBU Ankara Dr Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Ankara, Turkey., Cildir G; Centre for Cancer Biology, University of South Australia and SA Pathology, Adelaide, SA, 5000, Australia., Cicek B; Institute of Child Health, Hacettepe University, Ankara, Turkey., Bozkurt C; Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, Turkey., Tekeoglu S; Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, Turkey., Kaya M; Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, Turkey., Aydogmus C; Department of Pediatric Allergy and Clinical Immunology, University of Health Sciences, Istanbul Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey., Cipe F; Department of Pediatric Allergy and Clinical Immunology, Altinbas University School of Medicine, Istanbul, Turkey., Sucak G; Medical Park Bahçeşehir Hospital, Clinic of Hematology and Transplantation, İstanbul, Turkey., Eltan SB; Marmara University, Faculty of Medicine, Department of Pediatric Allergy and Immunology, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Ozen A; Marmara University, Faculty of Medicine, Department of Pediatric Allergy and Immunology, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Barıs S; Marmara University, Faculty of Medicine, Department of Pediatric Allergy and Immunology, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Karakoc-Aydiner E; Marmara University, Faculty of Medicine, Department of Pediatric Allergy and Immunology, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey., Kıykım A; Pediatric Allergy and Immunology, Cerrahpasa School of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Karaatmaca B; Department of Pediatric Allergy and Immunology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey., Kose H; Department of Pediatric Immunology, Diyarbakir Children Hospital, Diyarbakır, Turkey., Uygun DFK; Division of Allergy Immunology, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey., Celmeli F; Republic of Turkey Ministry of Health Antalya Training and Research Hospital Pediatric Immunology and Allergy Diseases, Antalya, Turkey., Arikoglu T; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Mersin University, Mersin, Turkey., Ozcan D; Division of Pediatric Allergy and Immunology, Faculty of Medicine, Balcali Hospital, Cukurova University, Adana, Turkey., Keskin O; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey., Arık E; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey., Aytekin ES; Department of Pediatric Allergy and Immunology, Etlik City Hospital, Ankara, Turkey., Cesur M; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey., Kucukosmanoglu E; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey., Kılıc M; Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, University of Firat, Elazığ, Turkey., Yuksek M; Department of Pediatric Immunology and Allergy, Faculty of Medicine, Zonguldak Bulent Ecevit University, Zonguldak, Turkey., Bıcakcı Z; Department of Pediatric Hematology, Faculty of Medicine, Ataturk University, Erzurum, Turkey., Esenboga S; Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University School of Medicine, Ankara, Turkey., Ayvaz DÇ; Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University School of Medicine, Ankara, Turkey.; Section of Pediatric Immunology, Institute of Child Health, Hacettepe University, Ankara, Turkey., Sefer AP; Department of Pediatric Allergy and Immunology, Şanlıurfa Training and Research Hospital, Şanlıurfa, Turkey., Guner SN; Department of Pediatric Immunology and Allergy, Medicine Faculty, Necmettin Erbakan University, Konya, Turkey., Keles S; Department of Pediatric Immunology and Allergy, Medicine Faculty, Necmettin Erbakan University, Konya, Turkey., Reisli I; Department of Pediatric Immunology and Allergy, Medicine Faculty, Necmettin Erbakan University, Konya, Turkey., Musabak U; Department of Immunology and Allergy, Baskent University School of Medicine, Ankara, Turkey., Demirbas ND; Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Turkey., Haskologlu S; Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Turkey., Kilic SS; Division of Pediatric Immunology-Rheumatology, Bursa Uludag University Faculty of Medicine, Bursa, Turkey.; Translational Medicine, Bursa Uludag University, Bursa, Turkey., Metin A; Department of Pediatric Allergy and Immunology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Turkey., Dogu F; Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Turkey., Ikinciogulları A; Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Turkey., Tezcan I; Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University School of Medicine, Ankara, Turkey.

المصدر: Journal of clinical immunology [J Clin Immunol] 2024 Jul 02; Vol. 44 (7), pp. 157. Date of Electronic Publication: 2024 Jul 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Exome Sequencing* , High-Throughput Nucleotide Sequencing*, Humans ; Male ; Female ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/immunology ; Genetic Predisposition to Disease ; Child ; Child, Preschool ; Mutation/genetics ; Genetic Testing/methods ; Infant ; Exome/genetics ; Adolescent

المؤلفون: Khalaf T; Genetic Counseling Division, Igenomix, Dubai, UAE., Al Ojaimi M; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, UAE.; Department of Pediatrics, University Hospital Sharjah, Sharjah, UAE., Saleh DA; Pediatric Neurology Division, American Center for Psychiatry and Neurology, Abu Dhabi, UAE.; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Sulaiman A; Pediatric Division, KidsHeart Medical Center, Abu Dhabi, UAE., Sohal AP; Pediatric Neurology Division, Neuropedia Children's Neuroscience Center, Dubai, UAE.; Pediatric Neurology Division, Al Qassimi Women and Children's Hospital, Sharjah, UAE., Khan A; Pediatric Neurology Division, Neuropedia Children's Neuroscience Center, Dubai, UAE.; Pediatric Division, Kings College Hospital London, Dubai, UAE.; Pediatric Neurology Division, Kids Neuro Clinic and Rehab Center, Dubai, UAE., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, UAE.; Department of Pediatrics, University Hospital Sharjah, Sharjah, UAE.

المصدر: Clinical genetics [Clin Genet] 2024 Jul; Vol. 106 (1), pp. 82-89. Date of Electronic Publication: 2024 Mar 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/diagnosis , Consanguinity* , Exome Sequencing* , DNA Copy Number Variations*/genetics, Humans ; Male ; Female ; Child ; Child, Preschool ; United Arab Emirates/epidemiology ; Infant ; Retrospective Studies ; Adolescent ; Phenotype ; Exome/genetics ; Developmental Disabilities/genetics ; Developmental Disabilities/diagnosis ; Developmental Disabilities/epidemiology

المؤلفون: Shang B; Department of Psychiatry, First Affiliated Hospital of Kunming Medical University, Kunming, China., Yang R; Department of Psychiatry, First Affiliated Hospital of Kunming Medical University, Kunming, China.; Yunnan medical Centre for Mental Health, Kunming, China., Lian K; Department of Psychiatry, First Affiliated Hospital of Kunming Medical University, Kunming, China., Dong L; Department of Psychiatry, First Affiliated Hospital of Kunming Medical University, Kunming, China., Liu H; Lincang Psychiatric Hospital, Lincang, China., Wang T; Lincang Psychiatric Hospital, Lincang, China., Yang G; Lincang Psychiatric Hospital, Lincang, China., Xi K; Department of Psychiatry, First Affiliated Hospital of Kunming Medical University, Kunming, China., Xu X; Department of Psychiatry, First Affiliated Hospital of Kunming Medical University, Kunming, China.; Yunnan medical Centre for Mental Health, Kunming, China., Cheng Y; Department of Psychiatry, First Affiliated Hospital of Kunming Medical University, Kunming, China.; Yunnan medical Centre for Mental Health, Kunming, China.

المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2024 Jul; Vol. 195 (5), pp. e32968. Date of Electronic Publication: 2024 Jan 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

مواضيع طبية MeSH: Schizophrenia*/genetics , Exome Sequencing*/methods , Pedigree* , Genetic Predisposition to Disease* , Mutation*/genetics, Humans ; Female ; Male ; Adult ; Exome/genetics ; Genetic Testing/methods ; Family