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Nicol Voermans

Showing results (31-40 of 47) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 18, 2017
The Ehlers-Danlos syndromes, rare typesAngela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
PREPL deficiency: delineation of the phenotype and development of a functional blood assayLuc Régal, Emma Mårtensson, Isabelle Maystadt, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2Marlinde L van den Boogaard, Richard J F L Lemmers, Pilar Camaño, et al.
Science Translational Medicine|June 24, 2026
<i>Kbtbd13</i> knockdown restores muscle function in a clinically relevant mouse model of nemaline myopathy type 6Ricardo A Galli, Leander A Vonk, Rianne J Baelde, et al.
Clinical Genetics|March 29, 2019
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patientsLeroy Ten Dam, Wendy S Frankhuizen, Wim H J P Linssen, et al.
Journal of Medical Genetics|June 28, 2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domainRichard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, et al.
Nature Communications|October 10, 2020
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutationHui J Wang, Chang Seok Lee, Rachel Sue Zhen Yee, et al.
The Journal of Clinical Investigation|March 23, 2021
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calciumMartijn van de Locht, Sandra Donkervoort, Josine M de Winter, et al.
Brain : a Journal of Neurology|February 19, 2025
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscleSivasankar Malaichamy, Romane Idoux, Kiran Polavarapu, et al.
Human Genetics|May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionMieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 18, 2017
The Ehlers-Danlos syndromes, rare typesAngela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
PREPL deficiency: delineation of the phenotype and development of a functional blood assayLuc Régal, Emma Mårtensson, Isabelle Maystadt, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2Marlinde L van den Boogaard, Richard J F L Lemmers, Pilar Camaño, et al.
Science Translational Medicine|June 24, 2026
<i>Kbtbd13</i> knockdown restores muscle function in a clinically relevant mouse model of nemaline myopathy type 6Ricardo A Galli, Leander A Vonk, Rianne J Baelde, et al.
Clinical Genetics|March 29, 2019
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patientsLeroy Ten Dam, Wendy S Frankhuizen, Wim H J P Linssen, et al.
Journal of Medical Genetics|June 28, 2019
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domainRichard J L F Lemmers, Nienke van der Stoep, Patrick J van der Vliet, et al.
Nature Communications|October 10, 2020
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutationHui J Wang, Chang Seok Lee, Rachel Sue Zhen Yee, et al.
The Journal of Clinical Investigation|March 23, 2021
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calciumMartijn van de Locht, Sandra Donkervoort, Josine M de Winter, et al.
Brain : a Journal of Neurology|February 19, 2025
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscleSivasankar Malaichamy, Romane Idoux, Kiran Polavarapu, et al.
Human Genetics|May 14, 2018
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunctionMieke Wesdorp, Pia A M de Koning Gans, Margit Schraders, et al.
Pageof 5