Search research articles
Contact Us
Filters
Showing results (71-80 of 93) with videos related to
Page
of 10
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 9, 2022
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach
Shannon Rego, Hannah Hoban, Simon Outram, 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.
Genome Medicine
|
November 22, 2022
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing
Kevin M Bowling, Michelle L Thompson, Melissa A Kelly, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2025
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
Maria K Haanpää, Chad R Haldeman-Englert, Marja Hietala, et al.
Human Molecular Genetics
|
November 20, 2012
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
Anne M Slavotinek, Pavni Mehrotra, Irina Nazarenko, et al.
EMBO Molecular Medicine
|
April 1, 2022
S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome
Fuying Chen, Cheng Ni, Xiaoxiao Wang, et al.
Human Molecular Genetics
|
May 5, 2022
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency
Korbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, et al.
European Journal of Human Genetics : EJHG
|
March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndrome
Ryan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
Journal of Medical Genetics
|
March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia
Jennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
The New England Journal of Medicine
|
October 7, 2020
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis
Teresa N Sparks, Billie R Lianoglou, Rebecca R Adami, et al.
Page
of 10
Search research articles
Search
Showing results (71-80 of 93) with videos related to
Sort By:
Page
of 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 9, 2022
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach
Shannon Rego, Hannah Hoban, Simon Outram, 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.
Genome Medicine
|
November 22, 2022
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing
Kevin M Bowling, Michelle L Thompson, Melissa A Kelly, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2025
Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes
Maria K Haanpää, Chad R Haldeman-Englert, Marja Hietala, et al.
Human Molecular Genetics
|
November 20, 2012
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
Anne M Slavotinek, Pavni Mehrotra, Irina Nazarenko, et al.
EMBO Molecular Medicine
|
April 1, 2022
S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome
Fuying Chen, Cheng Ni, Xiaoxiao Wang, et al.
Human Molecular Genetics
|
May 5, 2022
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency
Korbinian M Riedhammer, Anna L Burgemeister, Vincent Cantagrel, et al.
European Journal of Human Genetics : EJHG
|
March 24, 2016
Expansion of phenotype and genotypic data in CRB2-related syndrome
Ryan E Lamont, Wen-Hann Tan, A Micheil Innes, et al.
Journal of Medical Genetics
|
March 8, 2019
<i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia
Jennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.
The New England Journal of Medicine
|
October 7, 2020
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis
Teresa N Sparks, Billie R Lianoglou, Rebecca R Adami, et al.
Page
of 10