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American Journal of Medical Genetics. Part A
|
December 27, 2022
A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder
Abdulrahman A Aldeeri, Aya Abu-El-Haija
American Journal of Medical Genetics. Part A
|
November 12, 2020
Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms
Aya Abu-El-Haija, Caroline McGowan, Deborah Vanderveen, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2024
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS
Aya Abu-El-Haija, Kyle Dillahunt, Nicole Safina, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2018
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes
Aya Abu-El-Haija, Jeff Fineman, Andrew J Connolly, et al.
JIMD Reports
|
August 12, 2018
Cobalamin D Deficiency Identified Through Newborn Screening
Aya Abu-El-Haija, Bryce A Mendelsohn, Jacque L Duncan, et al.
American Journal of Medical Genetics. Part A
|
January 17, 2022
Delayed diagnosis and racial bias in children with genetic conditions
Jacklyn Omorodion, Leah Dowsett, Robin D Clark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 22, 2025
Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Angelika L Erwin, Aya Abu El Haija, James T Bennett, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2019
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy
Bryce A Mendelsohn, Daniah T Beleford, Aya Abu-El-Haija, et al.
American Journal of Medical Genetics. Part A
|
March 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome
Aya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar, et al.
HGG Advances
|
February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease Care
Shira Rockowitz, Wanqing Shao, Courtney French, et al.
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Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
American Journal of Medical Genetics. Part A
|
December 27, 2022
A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder
Abdulrahman A Aldeeri, Aya Abu-El-Haija
American Journal of Medical Genetics. Part A
|
November 12, 2020
Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms
Aya Abu-El-Haija, Caroline McGowan, Deborah Vanderveen, et al.
American Journal of Medical Genetics. Part A
|
May 27, 2024
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS
Aya Abu-El-Haija, Kyle Dillahunt, Nicole Safina, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2018
Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes
Aya Abu-El-Haija, Jeff Fineman, Andrew J Connolly, et al.
JIMD Reports
|
August 12, 2018
Cobalamin D Deficiency Identified Through Newborn Screening
Aya Abu-El-Haija, Bryce A Mendelsohn, Jacque L Duncan, et al.
American Journal of Medical Genetics. Part A
|
January 17, 2022
Delayed diagnosis and racial bias in children with genetic conditions
Jacklyn Omorodion, Leah Dowsett, Robin D Clark, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 22, 2025
Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Angelika L Erwin, Aya Abu El Haija, James T Bennett, et al.
American Journal of Medical Genetics. Part A
|
December 28, 2019
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy
Bryce A Mendelsohn, Daniah T Beleford, Aya Abu-El-Haija, et al.
American Journal of Medical Genetics. Part A
|
March 13, 2026
Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence-Farazi Cerebellar Ataxia Syndrome
Aya Abu-El-Haija, Allan Bayat, Hanifenur Mancılar, et al.
HGG Advances
|
February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease Care
Shira Rockowitz, Wanqing Shao, Courtney French, et al.
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