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Alexander Hoischen

Showing results (171-180 of 249) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
Nature Communications|January 10, 2013
Functional genomics identifies type I interferon pathway as central for host defense against Candida albicansSanne P Smeekens, Aylwin Ng, Vinod Kumar, et al.
Nature Communications|May 22, 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathologyYulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, et al.
Journal of Medical Genetics|August 20, 2025
Resolving structural variations missed by short-read sequencing uncovers their pathogenicityCaroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, et al.
Advanced Genetics (Hoboken, N.J.)|December 31, 2025
Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)Catherine A Brownstein, Caspar I van der Made, Kristin Cabral, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescenceLuisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.
European Journal of Human Genetics : EJHG|August 13, 2021
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
European Journal of Human Genetics : EJHG|March 10, 2019
Deletions and loss-of-function variants in TP63 associated with orofacial cleftingKriti D Khandelwal, Marie-José H van den Boogaard, Sarah L Mehrem, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
Pageof 25

Showing results (171-180 of 249) with videos related to

Sort By:
Pageof 25
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
Nature Communications|January 10, 2013
Functional genomics identifies type I interferon pathway as central for host defense against Candida albicansSanne P Smeekens, Aylwin Ng, Vinod Kumar, et al.
Nature Communications|May 22, 2021
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathologyYulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, et al.
Journal of Medical Genetics|August 20, 2025
Resolving structural variations missed by short-read sequencing uncovers their pathogenicityCaroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, et al.
Advanced Genetics (Hoboken, N.J.)|December 31, 2025
Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)Catherine A Brownstein, Caspar I van der Made, Kristin Cabral, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescenceLuisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.
European Journal of Human Genetics : EJHG|August 13, 2021
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
European Journal of Human Genetics : EJHG|March 10, 2019
Deletions and loss-of-function variants in TP63 associated with orofacial cleftingKriti D Khandelwal, Marie-José H van den Boogaard, Sarah L Mehrem, et al.
American Journal of Human Genetics|August 26, 2014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayRocio Acuna-Hidalgo, Denny Schanze, Ariana Kariminejad, et al.
Pageof 25