Search research articles
Contact Us
Filters
Showing results (1-10 of 5) with videos related to
Page
of 1
Sort By:
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
December 18, 2025
Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study
Nicholas R Levergood, Melissa W Ko, Katelyn K Payne, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2018
The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene
Hailey R Feldman, Stephen R Dlouhy, Melissa D Lah, et al.
Seminars in Neurology
|
November 23, 2022
Challenging Neuromuscular Disease Cases
Cynthia Bodkin, Adam Comer, Marcia Felker, et al.
American Journal of Human Genetics
|
December 30, 2019
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Joel J Hughes, Ebba Alkhunaizi, Paul Kruszka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Holly K Harris, Tojo Nakayama, Jenny Lai, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 5) with videos related to
Sort By:
Page
of 1
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
December 18, 2025
Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study
Nicholas R Levergood, Melissa W Ko, Katelyn K Payne, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2018
The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene
Hailey R Feldman, Stephen R Dlouhy, Melissa D Lah, et al.
Seminars in Neurology
|
November 23, 2022
Challenging Neuromuscular Disease Cases
Cynthia Bodkin, Adam Comer, Marcia Felker, et al.
American Journal of Human Genetics
|
December 30, 2019
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Joel J Hughes, Ebba Alkhunaizi, Paul Kruszka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Holly K Harris, Tojo Nakayama, Jenny Lai, et al.
Page
of 1