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Alban Ziegler

Showing results (31-40 of 83) with videos related to

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Clinical Genetics|December 28, 2020
Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPOAlban Ziegler, Anne-Sophie Denommé-Pichon, Sophie Boucher, et al.
Clinical Genetics|December 3, 2025
The Phenotypic Spectrum of Miller Syndrome: Insight From a French CohortMarion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, et al.
Nature Medicine|August 9, 2024
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorderAlban Ziegler, Joanne Carroll, Jennifer M Bain, et al.
Human Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2024
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigationAlexandre Buffet, Mathilde Filser, Alexandra Bruel, et al.
American Journal of Medical Genetics. Part A|December 4, 2019
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorderMarine Tessarech, Magali Gorce, Françoise Boussion, et al.
Clinical Genetics|August 20, 2021
Clinical and molecular delineation of PUS3-associated neurodevelopmental disordersMiriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich, et al.
Journal of Thrombosis and Haemostasis : JTH|May 19, 2023
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylationAlexandre Kauskot, Coralie Mallebranche, Arnaud Bruneel, et al.
American Journal of Human Genetics|July 20, 2022
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorderAlban Ziegler, Katharina Steindl, Ashleigh S Hanner, et al.
Human Molecular Genetics|June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing lossSissy Bassani, Edward van Beelen, Mireille Rossel, et al.
Pageof 9

Showing results (31-40 of 83) with videos related to

Sort By:
Pageof 9
Clinical Genetics|December 28, 2020
Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPOAlban Ziegler, Anne-Sophie Denommé-Pichon, Sophie Boucher, et al.
Clinical Genetics|December 3, 2025
The Phenotypic Spectrum of Miller Syndrome: Insight From a French CohortMarion Aubert Mucca, Perrine Brunelle, Martine Doco Fenzy, et al.
Nature Medicine|August 9, 2024
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorderAlban Ziegler, Joanne Carroll, Jennifer M Bain, et al.
Human Mutation|July 6, 2020
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFrederike L Harms, Padmini Parthasarathy, Dennis Zorndt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2024
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigationAlexandre Buffet, Mathilde Filser, Alexandra Bruel, et al.
American Journal of Medical Genetics. Part A|December 4, 2019
Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorderMarine Tessarech, Magali Gorce, Françoise Boussion, et al.
Clinical Genetics|August 20, 2021
Clinical and molecular delineation of PUS3-associated neurodevelopmental disordersMiriam Nøstvik, Sarah M Kateta, Bitten Schönewolf-Greulich, et al.
Journal of Thrombosis and Haemostasis : JTH|May 19, 2023
MAGT1 deficiency in XMEN disease is associated with severe platelet dysfunction and impaired platelet glycoprotein N-glycosylationAlexandre Kauskot, Coralie Mallebranche, Arnaud Bruneel, et al.
American Journal of Human Genetics|July 20, 2022
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorderAlban Ziegler, Katharina Steindl, Ashleigh S Hanner, et al.
Human Molecular Genetics|June 1, 2021
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing lossSissy Bassani, Edward van Beelen, Mireille Rossel, et al.
Pageof 9