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Ute Grasshoff

Showing results (31-40 of 45) 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.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
Journal of Medical Genetics|September 21, 2023
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesNicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2022
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndromeFrancis Ramond, Caroline Dalgliesh, Mona Grimmel, et al.
Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.
Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

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Pageof 5
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.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
Journal of Medical Genetics|September 21, 2023
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseasesNicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 22, 2022
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndromeFrancis Ramond, Caroline Dalgliesh, Mona Grimmel, et al.
Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.
Brain : a Journal of Neurology|February 22, 2024
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformationsLucia Laugwitz, Fubo Cheng, Stephan C Collins, et al.
Journal of Medical Genetics|November 6, 2021
Bi-allelic loss-of-function variants in <i>KIF21A</i> cause severe fetal akinesia with arthrogryposis multiplexRuth J Falb, Amelie J Müller, Wolfram Klein, et al.
Annals of Neurology|April 28, 2020
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 PatientsAndreas Traschütz, Tommaso Schirinzi, Lucia Laugwitz, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
Journal of Medical Genetics|August 14, 2023
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with <i>ZNF148</i> mutationsKatalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, et al.
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