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Olaf Bodamer

Showing results (1-10 of 74) with videos related to

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Current Protocols in Human Genetics|July 22, 2014
Diagnosis of lysosomal storage disorders: Gaucher diseaseBritt A Johnson, Angela Dajnoki, Olaf Bodamer
International Journal of Pediatric Otorhinolaryngology|February 28, 2021
The otolaryngologic manifestations of Sotos syndrome 1: A systematic reviewDavid O'Neil Danis, Olaf Bodamer, Jessica R Levi
Molecular Genetics and Metabolism Reports|October 30, 2019
Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patientsAmy Kritzer, Aishwarya Siddharth, Kate Leestma, et al.
Expert Opinion on Drug Discovery|January 25, 2025
Animal models of Kabuki syndrome and their applicability to novel drug discoveryMareike Mertens, Leen Khalife, Xiaoting Ma, et al.
Metabolic Brain Disease|August 16, 2017
Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementationFurhan Iqbal, Herald Hoeger, Gurt Lubec, et al.
American Journal of Medical Genetics. Part A|November 12, 2020
Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant formsAya Abu-El-Haija, Caroline McGowan, Deborah Vanderveen, et al.
Molecular Genetics and Metabolism Reports|May 19, 2017
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)Olaf Bodamer, Maurizio Scarpa, Christina Hung, et al.
Cold Spring Harbor Molecular Case Studies|January 24, 2020
The tale of two genes: from next-generation sequencing to phenotypeMersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, et al.
American Journal of Medical Genetics. Part A|December 18, 2019
Holoprosencephaly in Kabuki syndromeTara Daly, Abra Roberts, Edward Yang, et al.
Molecular Genetics & Genomic Medicine|December 10, 2019
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with lifeTeresa Romeo Luperchio, Carolyn D Applegate, Olaf Bodamer, et al.
Pageof 8

Showing results (1-10 of 74) with videos related to

Sort By:
Pageof 8
Current Protocols in Human Genetics|July 22, 2014
Diagnosis of lysosomal storage disorders: Gaucher diseaseBritt A Johnson, Angela Dajnoki, Olaf Bodamer
International Journal of Pediatric Otorhinolaryngology|February 28, 2021
The otolaryngologic manifestations of Sotos syndrome 1: A systematic reviewDavid O'Neil Danis, Olaf Bodamer, Jessica R Levi
Molecular Genetics and Metabolism Reports|October 30, 2019
Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patientsAmy Kritzer, Aishwarya Siddharth, Kate Leestma, et al.
Expert Opinion on Drug Discovery|January 25, 2025
Animal models of Kabuki syndrome and their applicability to novel drug discoveryMareike Mertens, Leen Khalife, Xiaoting Ma, et al.
Metabolic Brain Disease|August 16, 2017
Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementationFurhan Iqbal, Herald Hoeger, Gurt Lubec, et al.
American Journal of Medical Genetics. Part A|November 12, 2020
Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant formsAya Abu-El-Haija, Caroline McGowan, Deborah Vanderveen, et al.
Molecular Genetics and Metabolism Reports|May 19, 2017
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)Olaf Bodamer, Maurizio Scarpa, Christina Hung, et al.
Cold Spring Harbor Molecular Case Studies|January 24, 2020
The tale of two genes: from next-generation sequencing to phenotypeMersedeh Rohanizadegan, Aishwarya Siddharath, Kyle Retterer, et al.
American Journal of Medical Genetics. Part A|December 18, 2019
Holoprosencephaly in Kabuki syndromeTara Daly, Abra Roberts, Edward Yang, et al.
Molecular Genetics & Genomic Medicine|December 10, 2019
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with lifeTeresa Romeo Luperchio, Carolyn D Applegate, Olaf Bodamer, et al.
Pageof 8