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Carlo Marcelis

Showing results (41-50 of 55) with videos related to

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Brain : a Journal of Neurology|August 12, 2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusSerena Galosi, Ban H Edani, Simone Martinelli, et al.
HGG Advances|November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignatureLiselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
European Journal of Medical Genetics|March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSaskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Brain : a Journal of Neurology|February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyAlistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
European Journal of Human Genetics : EJHG|February 25, 2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patientsKristien P Hoornaert, Inge Vereecke, Chantal Dewinter, et al.
Circulation. Genomic and Precision Medicine|December 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating VariantEdgar T Hoorntje, Charlotte Burns, Luisa Marsili, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypePaulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individualsElisabeth Bosch, Bernt Popp, Esther Güse, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
Pageof 6

Showing results (41-50 of 55) with videos related to

Sort By:
Pageof 6
Brain : a Journal of Neurology|August 12, 2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusSerena Galosi, Ban H Edani, Simone Martinelli, et al.
HGG Advances|November 6, 2024
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignatureLiselot van der Laan, Ananília Silva, Lotte Kleinendorst, et al.
European Journal of Medical Genetics|March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSaskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Brain : a Journal of Neurology|February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyAlistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
European Journal of Human Genetics : EJHG|February 25, 2010
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patientsKristien P Hoornaert, Inge Vereecke, Chantal Dewinter, et al.
Circulation. Genomic and Precision Medicine|December 29, 2022
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (<i>DSP</i>) Truncating VariantEdgar T Hoorntje, Charlotte Burns, Luisa Marsili, et al.
American Journal of Medical Genetics. Part A|January 22, 2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypePaulien A Terhal, Rutger Jan A J Nievelstein, Eva J J Verver, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individualsElisabeth Bosch, Bernt Popp, Esther Güse, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, et al.
Pageof 6