المؤلفون: Wang, Z, Iida, A, Miyake, N, Nishiguchi, KM, Fujita, K, Nakazawa, T, Alswaid, A, Albalwi, MA, Kim, OH, Cho, TJ, Lim, GY, Isidor, B, David, A, Rustad, CF, Merckoll, E, Westvik, J, Stattin, EL, Grigelioniene, G, Kou, I, Nakajima, M, Ohashi, H, Smithson, S, Matsumoto, N, Nishimura, G, Ikegawa, S

المصدر: PloS one. 11(3):e0150555

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:133271922

المؤلفون: Alzahrani M; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Al Turki S; Department of Pathology and Laboratory Medicine, Molecular Pathology Division, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia., Al Rajban W; Department of Pathology and Laboratory Medicine, Molecular Pathology Division, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alshalati F; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Almodaihsh F; Department of Pathology and Laboratory Medicine, Hematopathology Unit, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Abuelgasim KA; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Division of Adult Hematology and Stem Cell Transplant, Department of Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alahmari B; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Division of Adult Hematology and Stem Cell Transplant, Department of Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Department of Oncology, Ministry of the National Guard Health Affairs, Riyadh, Saudi Arabia., Al Bogami T; Department of Pathology and Laboratory Medicine, Hematopathology Unit, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Ali O; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Division of Adult Hematology and Stem Cell Transplant, Department of Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Al Harbi T; Department of Pediatric Hematology and Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia., AlBalwi MA; Department of Pathology and Laboratory Medicine, Molecular Pathology Division, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia., Alotaibi M; Department of Pathology and Laboratory Medicine, Molecular Genetics Unit, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Aleem A; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Al Asker A; King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Division of Adult Hematology and Stem Cell Transplant, Department of Oncology, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Al Mugairi A; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Department of Pathology and Laboratory Medicine, Hematopathology Division, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

المصدر: Platelets [Platelets] 2022 Nov 17; Vol. 33 (8), pp. 1220-1227. Date of Electronic Publication: 2022 Jul 05.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9208117 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1369-1635 (Electronic) Linking ISSN: 09537104 NLM ISO Abbreviation: Platelets Subsets: MEDLINE

مواضيع طبية MeSH: Primary Myelofibrosis*/genetics , Primary Myelofibrosis*/pathology , Receptors, Thrombopoietin*/genetics , Thrombocytosis*/genetics , Thrombocytosis*/pathology , Thrombosis*/complications, Adult ; Bone Marrow/pathology ; Child ; Female ; Humans ; Male ; Mutation ; Retrospective Studies ; Splenomegaly/genetics

المؤلفون: Alharthi R; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Department of Dermatology, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alnahdi MA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Department of Ophthalmology, Ministry of National Guard Health Affairs, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alharthi A; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Almutairi S; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Department of Dermatology, King Fahad University Hospital, Al Khobar, Saudi Arabia., Al-Khenaizan S; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Department of Dermatology, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., AlBalwi MA; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Department of Pathology and Laboratory Medicine, Ministry of National Guard Health Affairs, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Medical Genomic Research Department, Ministry of National Guard Health Affairs, King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.

المصدر: Frontiers in genetics [Front Genet] 2022 Feb 10; Vol. 12, pp. 753229. Date of Electronic Publication: 2022 Feb 10 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

المؤلفون: Al-Khenaizan S; Division of Dermatology, Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia., AlSwailem A; Division of Dermatology, King Saud Medical City, Riyadh, Saudi Arabia., AlBalwi MA; Department of Pathology and Laboratory Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

المصدر: Case reports in dermatology [Case Rep Dermatol] 2021 Sep 21; Vol. 13 (3), pp. 470-473. Date of Electronic Publication: 2021 Sep 21 (Print Publication: 2021).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Karger Country of Publication: Switzerland NLM ID: 101517685 Publication Model: eCollection Cited Medium: Print ISSN: 1662-6567 (Print) Linking ISSN: 16626567 NLM ISO Abbreviation: Case Rep Dermatol Subsets: PubMed not MEDLINE

المؤلفون: Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany. aida.bertoli-avella@centogene.com., Kandaswamy KK; CENTOGENE GmbH, Rostock, Germany., Khan S; CENTOGENE GmbH, Rostock, Germany., Ordonez-Herrera N; CENTOGENE GmbH, Rostock, Germany., Tripolszki K; CENTOGENE GmbH, Rostock, Germany., Beetz C; CENTOGENE GmbH, Rostock, Germany., Rocha ME; CENTOGENE GmbH, Rostock, Germany., Urzi A; CENTOGENE GmbH, Rostock, Germany., Hotakainen R; CENTOGENE GmbH, Rostock, Germany., Leubauer A; CENTOGENE GmbH, Rostock, Germany., Al-Ali R; CENTOGENE GmbH, Rostock, Germany., Karageorgou V; CENTOGENE GmbH, Rostock, Germany., Moldovan O; Serviço de Genética Médica. Hospital de Santa Maria. Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal., Dias P; Serviço de Genética Médica. Hospital de Santa Maria. Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal., Alhashem A; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Tabarki B; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Albalwi MA; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.; College of Medicine, King Saud bin Abdulaziz University for Health Sciences. King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alswaid AF; College of Medicine, King Saud bin Abdulaziz University for Health Sciences. King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia., Al-Hassnan ZN; Department of Medical Genetics, King Faisal Specialist Hospital & Research Center, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alghamdi MA; Medical Genetic Division, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Hadipour Z; Medical Genetics Department, Atieh Research Center & Hospital, Tehran, Iran., Hadipour F; Medical Genetics Department, Atieh Research Center & Hospital, Tehran, Iran., Al Hashmi N; National Genetic Center, Royal Hospital Muscat. Sultanate of Oman, Muscat, Oman., Al-Gazali L; Department of Pediatrics, Tawan Hospital, Al-Ain, United Arab Emirates., Cheema H; Pediatric Department of Gastroenterology, Children's Hospital of Lahore Hospital, Lahore, Pakistan., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Hüning I; Institute of Human Genetics, University Hospital Schleswig-Holstein, Lübeck, Germany., Alfares A; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Department of Pediatrics, College of Medicine, Qassim University, Riyadh, Saudi Arabia., Eyaid W; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia., Al Mutairi F; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia., Alfadhel M; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Sannaa NA; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., AlShamsi AM; Department of Pediatrics, Tawan Hospital, Al-Ain, United Arab Emirates., Ameziane N; CENTOGENE GmbH, Rostock, Germany., Rolfs A; CENTOGENE GmbH, Rostock, Germany.; University of Rostock, Rostock, Germany., Bauer P; CENTOGENE GmbH, Rostock, Germany.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Aug; Vol. 23 (8), pp. 1551-1568. Date of Electronic Publication: 2021 Apr 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Exome*/genetics , Intellectual Disability*/diagnosis , Intellectual Disability*/genetics, Base Sequence ; Humans ; Nerve Tissue Proteins ; Phenotype ; Exome Sequencing

المؤلفون: Bertoli-Avella AM; CENTOGENE AG, Rostock, Germany., Beetz C; CENTOGENE AG, Rostock, Germany., Ameziane N; CENTOGENE AG, Rostock, Germany., Rocha ME; CENTOGENE AG, Rostock, Germany., Guatibonza P; CENTOGENE AG, Rostock, Germany., Pereira C; CENTOGENE AG, Rostock, Germany., Calvo M; CENTOGENE AG, Rostock, Germany., Herrera-Ordonez N; CENTOGENE AG, Rostock, Germany., Segura-Castel M; CENTOGENE AG, Rostock, Germany., Diego-Alvarez D; CENTOGENE AG, Rostock, Germany., Zawada M; CENTOGENE AG, Rostock, Germany., Kandaswamy KK; CENTOGENE AG, Rostock, Germany., Werber M; CENTOGENE AG, Rostock, Germany., Paknia O; CENTOGENE AG, Rostock, Germany., Zielske S; CENTOGENE AG, Rostock, Germany., Ugrinovski D; CENTOGENE AG, Rostock, Germany., Warnack G; CENTOGENE AG, Rostock, Germany., Kampe K; CENTOGENE AG, Rostock, Germany., Iurașcu MI; CENTOGENE AG, Rostock, Germany., Cozma C; CENTOGENE AG, Rostock, Germany., Vogel F; CENTOGENE AG, Rostock, Germany., Alhashem A; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Hertecant J; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Al-Shamsi AM; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Alswaid AF; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Eyaid W; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia., Al Mutairi F; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia., Alfares A; Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Albalwi MA; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia., Al-Sannaa NA; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Reardon W; Clinical Genetics, Children's Health Ireland (CHI), Crumlin, Ireland., Alanay Y; Pediatric Genetics Division, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Rolfs A; CENTOGENE AG, Rostock, Germany.; University of Rostock, Rostock, Germany., Bauer P; CENTOGENE AG, Rostock, Germany. Peter.Bauer@centogene.com.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jan; Vol. 29 (1), pp. 141-153. Date of Electronic Publication: 2020 Aug 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Diseases, Inborn/*diagnosis , Genetic Testing/*standards , Exome Sequencing/*standards, Adolescent ; Child ; Child, Preschool ; Female ; Gene Frequency ; Genetic Diseases, Inborn/epidemiology ; Genetic Diseases, Inborn/genetics ; Genetic Testing/statistics & numerical data ; Humans ; Infant ; Infant, Newborn ; Male ; Prenatal Diagnosis/standards ; Prenatal Diagnosis/statistics & numerical data ; Sensitivity and Specificity ; Exome Sequencing/statistics & numerical data

المؤلفون: AlBalwi MA; Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address: balwim@ngha.med.sa., Khan A; The University of Sydney, Sydney, Austria., AlDrees M; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Gk U; Integrated Gulf Biosytems, Riyadh, Saudi Arabia., Manie B; Integrated Gulf Biosytems, Riyadh, Saudi Arabia., Arabi Y; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; Department of Intensive Care Unit, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alabdulkareem I; Health Sciences Research Center, King Abdullah Bin Abdulaziz University Hospital, Prince Nourah bint Abdulrahman University, Riyadh, Saudi Arabia., AlJohani S; Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alghoribi M; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., AlAskar A; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., AlAjlan A; Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Hajeer A; Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

المصدر: Journal of infection and public health [J Infect Public Health] 2020 Oct; Vol. 13 (10), pp. 1544-1550. Date of Electronic Publication: 2020 Jul 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101487384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-035X (Electronic) Linking ISSN: 18760341 NLM ISO Abbreviation: J Infect Public Health Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Coronavirus Infections/*virology , Middle East Respiratory Syndrome Coronavirus/*genetics , RNA, Viral/*analysis, Adult ; Aged ; Amino Acids/genetics ; Coronavirus Nucleocapsid Proteins ; Female ; Humans ; Male ; Middle Aged ; Nucleocapsid Proteins/genetics ; Phylogeny ; Saudi Arabia ; Virulence/genetics ; Whole Genome Sequencing

المؤلفون: Al Ghamdi MA; Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia., Al-Qattan MM; Department of Surgery, King Saud University, Riyadh, Saudi Arabia., Hadadi A; Department of Plastic and Reconstractive Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alabdulrahman A; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Almuzzaini B; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alatwi N; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., AlBalwi MA; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address: balwim@ngha.med.sa.

المصدر: European journal of medical genetics [Eur J Med Genet] 2020 Mar; Vol. 63 (3), pp. 103738. Date of Electronic Publication: 2019 Aug 14.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Limb Deformities, Congenital/*genetics , Proto-Oncogene Proteins/*genetics , Rare Diseases/*genetics , Wnt Proteins/*genetics, Codon, Nonsense ; Female ; Homozygote ; Humans ; Limb Deformities, Congenital/classification ; Limb Deformities, Congenital/diagnostic imaging ; Limb Deformities, Congenital/pathology ; Male ; Mutation, Missense ; Pedigree ; Phenotype ; RNA Splicing

SCR Disease Name: Split-Hand-Foot Malformation 6

المؤلفون: Khan A; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., AlBalwi MA; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address: balwim@ngha.med.sa., AlAbdulkareem I; Intramural health sciences research, Princess Nourah Bint Abdulrahman university, Riyadh, Saudi Arabia., AlMasoud A; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., AlAsiri A; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., AlHarbi W; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., AlSehile F; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., El-Saed A; Department of Infection Prevention & Control Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Balkhy HH; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; Department of Infection Prevention & Control Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.

المصدر: Journal of infection and public health [J Infect Public Health] 2019 Jul - Aug; Vol. 12 (4), pp. 557-567. Date of Electronic Publication: 2019 Feb 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101487384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-035X (Electronic) Linking ISSN: 18760341 NLM ISO Abbreviation: J Infect Public Health Subsets: MEDLINE

مواضيع طبية MeSH: Disease Outbreaks* , Evolution, Molecular*, Influenza A Virus, H1N1 Subtype/*genetics , Influenza, Human/*epidemiology, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bayes Theorem ; Child ; Child, Preschool ; Female ; Genetic Variation ; Genotype ; Humans ; Infant ; Influenza A Virus, H1N1 Subtype/isolation & purification ; Influenza, Human/virology ; Male ; Middle Aged ; Nasopharynx/virology ; Phylogeny ; Point Mutation ; RNA, Viral/genetics ; Saudi Arabia/epidemiology ; Young Adult

المؤلفون: Al-Qattan MM; Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia.; Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Hadadi A; King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, Saudi Arabia., Al-Thunayan AM; Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Eldali AA; Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., AlBalwi MA; King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, Saudi Arabia. Balwim@ngha.med.sa.; Department of Pathology & Laboratory Medicine, MC1122, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, P.O Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia. Balwim@ngha.med.sa.; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. Balwim@ngha.med.sa.

المصدر: BMC medical genetics [BMC Med Genet] 2018 Sep 04; Vol. 19 (1), pp. 158. Date of Electronic Publication: 2018 Sep 04.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Class I Phosphatidylinositol 3-Kinases/*genetics , Growth Disorders/*genetics , Mutation/*genetics , Upper Extremity/*growth & development , Upper Extremity Deformities, Congenital/*genetics, Abnormalities, Multiple/genetics ; Child ; Genetic Association Studies ; Humans ; Infant ; Lipoma/genetics ; Male ; Phenotype ; Syndrome