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Alban Ziegler

Showing results (21-30 of 83) with videos related to

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Journal of Medical Genetics|July 10, 2025
Commentary on <i>UBTF</i> haploinsufficiency associated with <i>UBTF</i>-related global developmental delay and distinctive facial features without neuroregressionTony Yammine, Sandra Mercier, Céline Poirsier, et al.
Frontiers in Neurology|April 12, 2021
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic NeuropathyMajida Charif, Céline Bris, David Goudenège, et al.
Human Genetics|July 27, 2021
ZNF668 deficiency causes a recognizable disorder of DNA damage repairHessa S Alsaif, Hatoon Al Ali, Eissa Faqeih, et al.
Ophthalmic Genetics|February 23, 2016
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45Mélanie Fradin, Estelle Colin, Daniele Hannouche-Bared, et al.
Open Biology|December 3, 2024
Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndromeTom Snelling, Leo O Garnotel, Isabelle Jeru, et al.
European Journal of Medical Genetics|March 7, 2018
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasiaStéphanie Moortgat, Damien Lederer, Marie Deprez, et al.
Molecular and Cellular Biology|September 2, 2024
<i>De Novo</i> Missense Variations of ATP8B2 Impair Its Phosphatidylcholine Flippase ActivityHiroyuki Takatsu, Narumi Nishimura, Yusuke Kosugi, et al.
American Journal of Medical Genetics. Part A|July 18, 2023
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophyJudit Kárteszi, Alban Ziegler, Mariann Tihanyi, et al.
European Journal of Human Genetics : EJHG|July 7, 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasiaMarion Aubert Mucca, Roberto Mendoza-Londono, Valérie Cormier-Daire, et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)|April 26, 2025
Reduced AKT activation accompanied with high TP53 expression is implicated in the impaired hematogenesis in Ziegler-Huang syndrome and the Znt7 null mice partially recapitulates the human disease linked to pancytopeniaLiping Huang, Steven T Nguyen, Zhongyue Yang, et al.
Pageof 9

Showing results (21-30 of 83) with videos related to

Sort By:
Pageof 9
Journal of Medical Genetics|July 10, 2025
Commentary on <i>UBTF</i> haploinsufficiency associated with <i>UBTF</i>-related global developmental delay and distinctive facial features without neuroregressionTony Yammine, Sandra Mercier, Céline Poirsier, et al.
Frontiers in Neurology|April 12, 2021
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic NeuropathyMajida Charif, Céline Bris, David Goudenège, et al.
Human Genetics|July 27, 2021
ZNF668 deficiency causes a recognizable disorder of DNA damage repairHessa S Alsaif, Hatoon Al Ali, Eissa Faqeih, et al.
Ophthalmic Genetics|February 23, 2016
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45Mélanie Fradin, Estelle Colin, Daniele Hannouche-Bared, et al.
Open Biology|December 3, 2024
Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndromeTom Snelling, Leo O Garnotel, Isabelle Jeru, et al.
European Journal of Medical Genetics|March 7, 2018
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasiaStéphanie Moortgat, Damien Lederer, Marie Deprez, et al.
Molecular and Cellular Biology|September 2, 2024
<i>De Novo</i> Missense Variations of ATP8B2 Impair Its Phosphatidylcholine Flippase ActivityHiroyuki Takatsu, Narumi Nishimura, Yusuke Kosugi, et al.
American Journal of Medical Genetics. Part A|July 18, 2023
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophyJudit Kárteszi, Alban Ziegler, Mariann Tihanyi, et al.
European Journal of Human Genetics : EJHG|July 7, 2026
Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasiaMarion Aubert Mucca, Roberto Mendoza-Londono, Valérie Cormier-Daire, et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (GMS)|April 26, 2025
Reduced AKT activation accompanied with high TP53 expression is implicated in the impaired hematogenesis in Ziegler-Huang syndrome and the Znt7 null mice partially recapitulates the human disease linked to pancytopeniaLiping Huang, Steven T Nguyen, Zhongyue Yang, et al.
Pageof 9