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Bader Alhaddad

Showing results (31-40 of 61) with videos related to

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American Journal of Human Genetics|September 5, 2015
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech ImpairmentMaja Hempel, Kirsten Cremer, Charlotte W Ockeloen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Neurology. Genetics|June 26, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophyStefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.
Brain : a Journal of Neurology|January 18, 2021
Bi-allelic truncating mutations in VWA1 cause neuromyopathyMarcus Deschauer, Holger Hengel, Katrin Rupprich, et al.
Clinical Genetics|October 7, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy SpectrumLuba M Pardo, Javier Martini, Emir Zonic, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 21, 2017
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyDariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, et al.
Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.
HGG Advances|March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem ManifestationsRodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Pageof 7

Showing results (31-40 of 61) with videos related to

Sort By:
Pageof 7
American Journal of Human Genetics|September 5, 2015
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech ImpairmentMaja Hempel, Kirsten Cremer, Charlotte W Ockeloen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Neurology. Genetics|June 26, 2020
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophyStefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.
Brain : a Journal of Neurology|January 18, 2021
Bi-allelic truncating mutations in VWA1 cause neuromyopathyMarcus Deschauer, Holger Hengel, Katrin Rupprich, et al.
Clinical Genetics|October 7, 2025
Biallelic Variants in TMEM17 Cause Meckel-Gruber Syndrome Within the Ciliopathy SpectrumLuba M Pardo, Javier Martini, Emir Zonic, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 21, 2017
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyDariusz Rokicki, Magdalena Pajdowska, Joanna Trubicka, et al.
Neuropediatrics|June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic SpectrumBader Alhaddad, Anna Schossig, Tobias B Haack, et al.
HGG Advances|March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem ManifestationsRodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Pageof 7