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Medrxiv : the Preprint Server for Health Sciences
|
March 30, 2023
Implication of <i>FOXD2</i> dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.
Genome Medicine
|
September 30, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients
Khadijah Bakur, Halima Hamid, Bader Alhaddad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 5, 2020
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Anaïs Begemann, Heinrich Sticht, Amber Begtrup, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy
Pritha Bisarad, Yung-Chun Wang, Peter T Skidmore, et al.
Annals of Neurology
|
December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Kidney International
|
December 28, 2023
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
Adam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.
The Lancet. Neurology
|
October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing study
Michael Zech, Robert Jech, Sylvia Boesch, et al.
American Journal of Human Genetics
|
October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Elodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 11, 2026
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect
Khadijah Bakur, Bader Alhaddad, Ali Balubaid, et al.
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of 7
Search research articles
Search
Showing results (51-60 of 61) with videos related to
Sort By:
Page
of 7
Medrxiv : the Preprint Server for Health Sciences
|
March 30, 2023
Implication of <i>FOXD2</i> dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.
Genome Medicine
|
September 30, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients
Khadijah Bakur, Halima Hamid, Bader Alhaddad, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 5, 2020
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Anaïs Begemann, Heinrich Sticht, Amber Begtrup, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 24, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy
Pritha Bisarad, Yung-Chun Wang, Peter T Skidmore, et al.
Annals of Neurology
|
December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Kidney International
|
December 28, 2023
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.
Nature Genetics
|
March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
Adam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.
The Lancet. Neurology
|
October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing study
Michael Zech, Robert Jech, Sylvia Boesch, et al.
American Journal of Human Genetics
|
October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Elodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 11, 2026
High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect
Khadijah Bakur, Bader Alhaddad, Ali Balubaid, et al.
Page
of 7