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Christine Fauth

Showing results (51-60 of 61) with videos related to

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Molecular Genetics & Genomic Medicine|April 2, 2014
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minorsStefanie Spiegler, Juliane Najm, Jian Liu, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Human Mutation|October 28, 2010
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10Karin Frank-Raue, Lisa A Rybicki, Zoran Erlic, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformationsCharlotte Guillouet, Valeria Agostini, Geneviève Baujat, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2019
PEDIA: prioritization of exome data by image analysisTzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Pageof 7

Showing results (51-60 of 61) with videos related to

Sort By:
Pageof 7
Molecular Genetics & Genomic Medicine|April 2, 2014
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minorsStefanie Spiegler, Juliane Najm, Jian Liu, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
Human Mutation|October 28, 2010
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10Karin Frank-Raue, Lisa A Rybicki, Zoran Erlic, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformationsCharlotte Guillouet, Valeria Agostini, Geneviève Baujat, et al.
Medrxiv : the Preprint Server for Health Sciences|August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathwaysFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2019
PEDIA: prioritization of exome data by image analysisTzung-Chien Hsieh, Martin A Mensah, Jean T Pantel, et al.
Nature Communications|April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethalityFrancesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Pageof 7