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European Journal of Pediatrics
|
November 13, 2014
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome
Jennifer E Posey, Vedanta Dariya, Joseph L Edmonds, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease
Nadia Falah, Jennifer E Posey, Willa Thorson, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2015
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant
Tamar Harel, Jennifer E Posey, Brett H Graham, et al.
BMC Medical Genomics
|
April 15, 2024
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
September 14, 2025
Reported Demographics of Primary Immunodeficiency Diseases in the United States
Lavinia Ferrante di Ruffano, Emma Carr, Mary Edwards, et al.
American Journal of Medical Genetics. Part A
|
December 29, 2020
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)
Gerrye Mubungu, Prince Makay, Bouchra Boujemla, et al.
European Journal of Human Genetics : EJHG
|
September 5, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
E Andres Rivera-Munoz, Xiaonan E Zhao, Jill A Rosenfeld, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 16, 2024
Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation
Brandon T Garcia, Lauren Westerfield, Priya Yelemali, et al.
American Journal of Medical Genetics. Part A
|
September 21, 2020
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome
K Taylor Wild, Tia Gordon, Elizabeth J Bhoj, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 24, 2025
Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric Population
Shilpi Relan, Guido Alarcon, Danielle Guffey, et al.
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Search research articles
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Showing results (11-20 of 195) with videos related to
Sort By:
Page
of 20
European Journal of Pediatrics
|
November 13, 2014
Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome
Jennifer E Posey, Vedanta Dariya, Joseph L Edmonds, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease
Nadia Falah, Jennifer E Posey, Willa Thorson, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2015
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant
Tamar Harel, Jennifer E Posey, Brett H Graham, et al.
BMC Medical Genomics
|
April 15, 2024
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Tugce Bozkurt-Yozgatli, Davut Pehlivan, Richard A Gibbs, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
September 14, 2025
Reported Demographics of Primary Immunodeficiency Diseases in the United States
Lavinia Ferrante di Ruffano, Emma Carr, Mary Edwards, et al.
American Journal of Medical Genetics. Part A
|
December 29, 2020
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)
Gerrye Mubungu, Prince Makay, Bouchra Boujemla, et al.
European Journal of Human Genetics : EJHG
|
September 5, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
E Andres Rivera-Munoz, Xiaonan E Zhao, Jill A Rosenfeld, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 16, 2024
Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation
Brandon T Garcia, Lauren Westerfield, Priya Yelemali, et al.
American Journal of Medical Genetics. Part A
|
September 21, 2020
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome
K Taylor Wild, Tia Gordon, Elizabeth J Bhoj, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 24, 2025
Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric Population
Shilpi Relan, Guido Alarcon, Danielle Guffey, et al.
Page
of 20