المؤلفون: Ashaat, Engy A.^{Aff1, IDs1203502303866y_cor1}, Ahmed, Hoda A., Elaraby, Nesma M., Fayez, Alaaeldin, Metwally, Ammal M., Mekkawy, Mona K., Hussen, Dalia Farouk, Ashaat, Neveen A., Elhossini, Rasha M., ElAwady, Heba Ahmed, Abdelgawad, Randa H. A., Gammal, Mona El, Al Kersh, Mohamed Ahmed, Saleh, Dina Amin

المصدر: Molecular Neurobiology. 61(8):4949-4961

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المؤلفون: Hussen, Dalia Farouk^Aff1, Hussein, Ayat Allah Farouk, Monzer, Mahmoud Abdel Moety, Hammad, Saida Ali

المصدر: Egyptian Journal of Medical Human Genetics. 22(1)

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المؤلفون: Tekendo‐Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A., Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angélica, Huckstadt, Victoria, Ashaat, Engy A., Hussen, Dalia Farouk, Luk, Ho‐Ming, Lo, Ivan F. M., Hon‐Yin Chung, Brian, Fung, Jasmine L. F., Moretti‐Ferreira, Danilo, Batista, Letícia Cassimiro, Lotz‐Esquivel, Stephanie, Saborio‐Rocafort, Manuel, Badilla‐Porras, Ramses

المصدر: American Journal of Medical Genetics. Part A; Dec2020, Vol. 182 Issue 12, p2939-2950, 12p

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المؤلفون: Leah Dowsett, Omar A. Abdul-Rahman, Kelly L. Jones, Nicole Fleischer, Leon Mutesa, Babajide Owosela, María Gabriela Obregon, Victoria Huckstadt, Ebenezer Badoe, Bryan Malonga, Ekanem N. Ekure, Neerja Gupta, Ho Ming Luk, Gerarda Cappuccio, Engy A. Ashaat, Alicia Diaz-Kuan, Mona O. El Ruby, Jasmine L.F. Fung, Paul Kruszka, Stephanie Lotz-Esquivel, Nirmala D. Sirisena, Monica Penon Portmann, Carolyn Sian Kitchin, Cedrik Tekendo-Ngongang, Ifeanyi Kanayo Ifeorah, Meow-Keong Thong, Annette Uwineza, Sansan Lee, Yonit A. Addissie, Brian H.Y. Chung, Ivan F M Lo, Dalia Farouk Hussen, Angélica Moresco, Vajira H. W. Dissanayake, Maximilian Muenke, Nicola Brunetti-Pierri, Eloise J. Prijoles, Ramses Badilla-Porras, Roger E. Stevenson, Leticia Cassimiro Batista, Manuel Saborio-Rocafort, Danilo Moretti-Ferreira, Arianne Llamos Paneque

المساهمون: Tekendo-Ngongang, Cedrik, Owosela, Babajide, Fleischer, Nicole, Addissie, Yonit A, Malonga, Bryan, Badoe, Ebenezer, Gupta, Neerja, Moresco, Angélica, Huckstadt, Victoria, Ashaat, Engy A, Hussen, Dalia Farouk, Luk, Ho-Ming, Lo, Ivan F M, Hon-Yin Chung, Brian, Fung, Jasmine L F, Moretti-Ferreira, Danilo, Batista, Letícia Cassimiro, Lotz-Esquivel, Stephanie, Saborio-Rocafort, Manuel, Badilla-Porras, Ramse, Penon Portmann, Monica, Jones, Kelly L, Abdul-Rahman, Omar A, Uwineza, Annette, Prijoles, Eloise J, Ifeorah, Ifeanyi Kanayo, Llamos Paneque, Arianne, Sirisena, Nirmala D, Dowsett, Leah, Lee, Sansan, Cappuccio, Gerarda, Kitchin, Carolyn Sian, Diaz-Kuan, Alicia, Thong, Meow-Keong, Obregon, María Gabriela, Mutesa, Leon, Dissanayake, Vajira H W, El Ruby, Mona O, Brunetti-Pierri, Nicola, Ekure, Ekanem Nsikak, Stevenson, Roger E, Muenke, Maximilian, Kruszka, Paul, The National Institutes of Health, FDNA Inc., College of Health Sciences, All India Institute of Medical Sciences, Hospital de Pediatría Garrahan, National Research Centre, Hong Kong Special Administrative Region, Universidade Estadual Paulista (Unesp), Hospital San Juan de Dios (CCSS), National Children's Hospital Dr. Carlos Sáenz Herrera (CCSS), University of California San Francisco, Children's Hospital of The King's Daughters, University of Nebraska Medical Center, University of Rwanda, Greenwood Genetic Center, Nigerian Air Force, School of Dentistry, University of Colombo, Kapi'olani Medical Center and University of Hawai'i, Federico II University, Telethon Institute of Genetics and Medicine (TIGEM), University of Cape Town, Instituto de Medicina Genética, University of Malaya, University of Lagos, American College of Medical Genetics and Genomics

المصدر: Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP

مصطلحات موضوعية: Adult, Male, Rubinstein–Taybi syndrome, Pediatrics, medicine.medical_specialty, Asia, Adolescent, Population, facial analysis technology, Physical examination, African Group, European descent, Cohort Studies, Middle East, Young Adult, Intellectual disability, Genetics, medicine, Ethnicity, Humans, Craniofacial, education, Child, Genetics (clinical), Genetic Association Studies, Rubinstein-Taybi Syndrome, education.field_of_study, medicine.diagnostic_test, Receiver operating characteristic, business.industry, Infant, International Agencies, Middle Aged, medicine.disease, Prognosis, Latin America, Genetics, Population, Case-Control Studies, Child, Preschool, Face, Africa, Mutation, Female, business, E1A-Associated p300 Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca82666415ba7ee9475ce70da2da1f9f
https://pubmed.ncbi.nlm.nih.gov/32985117

المؤلفون: Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Savage SK; FDNA Inc., Boston, Massachusetts., Gupta N; Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Aravena T; Departamento de Medicina, Hospital Clínico de la Universidad de Chile, Santiago, Chile., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Patil SJ; Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospital, Bangalore, India., Jamuar SS; Genetics service, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore, Singapore.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Goh JC; Division of Nursing - Nursing Specialist Services, KK Women's and Children's Hospital, Singapore, Singapore., Utari A; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Sihombing N; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Mishra R; Division of Human Genetics, Civil Service Hospital, Kathmandu, Nepal., Chitrakar NS; Division of Human Genetics, Civil Service Hospital, Kathmandu, Nepal., Iriele BC; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Lulseged E; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Megarbane A; Institut Jérôme Lejeune, Paris, France., Uwineza A; College of Medicine and Pharmacy, School of Medicine and Pharmacy, Center of Human Genetics, University of Rwanda, Kigali, Rwanda., Oyenusi EE; Department of Pediatrics, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Olopade OB; Department of Medicine, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Fasanmade OA; Department of Medicine, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Duenas-Roque MM; Servicio de Genética, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Tung JYL; Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong, China., Mok GTK; Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong, China., Fleischer N; FDNA Inc., Boston, Massachusetts., Rwegerera GM; Department of Internal Medicine, University of Botswana, Gaborone, Botswana., de Herreros MB; National Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay., Watts J; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Fieggen K; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Hussen DF; Department of Human Cytogenetics, The National Research Centre, Cairo, Egypt., Ashaat NA; Faculty of Women for Science, Ain Shams University, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, The National Research Centre, Cairo, Egypt., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Badoe E; Department of Child Health, University of Ghana Medical School, Accra, Ghana., Faradz SMH; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., El Ruby MO; Clinical Genetics Department, The National Research Centre, Cairo, Egypt., Shotelersuk V; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Wonkam A; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Ekure EN; Department of Pediatrics, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India., Richieri-Costa A; Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Bauru, Brazil., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Feb; Vol. 182 (2), pp. 303-313. Date of Electronic Publication: 2019 Dec 19.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*epidemiology , Face/*abnormalities , Noonan Syndrome/*epidemiology , Turner Syndrome/*epidemiology, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Adolescent ; Adult ; Asian People/genetics ; Child ; Child, Preschool ; Chromosomes, Human, X/genetics ; Face/pathology ; Facial Recognition ; Female ; Hispanic or Latino/genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Noonan Syndrome/physiopathology ; Phenotype ; Population Surveillance ; Turner Syndrome/diagnosis ; Turner Syndrome/genetics ; Turner Syndrome/physiopathology ; White People/genetics ; Young Adult