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Judith Fischer

Showing results (81-90 of 174) with videos related to

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Molecular Genetics & Genomic Medicine|December 27, 2019
Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicitySahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, et al.
The International Journal of Neuroscience|October 30, 2009
Tracing the origin of L-2-hydroxyglutaric aciduria in a familyJörn Oliver Sass, Janet S Romrell, Sarah Y Vinson, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effectValérie Delague, Eliane Chouery, Sandra Corbani, et al.
Acta Dermato-Venereologica|March 31, 2016
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 PatientsMaritta Hellström Pigg, Anette Bygum, Agneta Gånemo, et al.
BMC Medical Genomics|January 5, 2022
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlationMariem Ennouri, Andreas D Zimmer, Emna Bahloul, et al.
Nature Cell Biology|May 7, 2013
Oligodendrogliogenic and neurogenic adult subependymal zone neural stem cells constitute distinct lineages and exhibit differential responsiveness to Wnt signallingFelipe Ortega, Sergio Gascón, Giacomo Masserdotti, et al.
Acta Dermato-Venereologica|May 4, 2016
Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra PilarisCristina Has, Agnes Schwieger-Briel, Nina Schlipf, et al.
The Journal of Allergy and Clinical Immunology|December 3, 2014
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizationsDimitra Kiritsi, Manthoula Valari, Paola Fortugno, et al.
JIMD Reports|September 9, 2020
Neonatal presentation of COG6-CDG with prominent skin phenotypeKatalin Komlosi, Selina Gläser, Julia Kopp, et al.
The Journal of Investigative Dermatology|February 6, 2009
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphismHala Mégarbané, Jobard Florence, Jörn Oliver Sass, et al.
Pageof 18

Showing results (81-90 of 174) with videos related to

Sort By:
Pageof 18
Molecular Genetics & Genomic Medicine|December 27, 2019
Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicitySahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, et al.
The International Journal of Neuroscience|October 30, 2009
Tracing the origin of L-2-hydroxyglutaric aciduria in a familyJörn Oliver Sass, Janet S Romrell, Sarah Y Vinson, et al.
American Journal of Medical Genetics. Part A|September 10, 2005
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effectValérie Delague, Eliane Chouery, Sandra Corbani, et al.
Acta Dermato-Venereologica|March 31, 2016
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 PatientsMaritta Hellström Pigg, Anette Bygum, Agneta Gånemo, et al.
BMC Medical Genomics|January 5, 2022
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlationMariem Ennouri, Andreas D Zimmer, Emna Bahloul, et al.
Nature Cell Biology|May 7, 2013
Oligodendrogliogenic and neurogenic adult subependymal zone neural stem cells constitute distinct lineages and exhibit differential responsiveness to Wnt signallingFelipe Ortega, Sergio Gascón, Giacomo Masserdotti, et al.
Acta Dermato-Venereologica|May 4, 2016
Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra PilarisCristina Has, Agnes Schwieger-Briel, Nina Schlipf, et al.
The Journal of Allergy and Clinical Immunology|December 3, 2014
Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizationsDimitra Kiritsi, Manthoula Valari, Paola Fortugno, et al.
JIMD Reports|September 9, 2020
Neonatal presentation of COG6-CDG with prominent skin phenotypeKatalin Komlosi, Selina Gläser, Julia Kopp, et al.
The Journal of Investigative Dermatology|February 6, 2009
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphismHala Mégarbané, Jobard Florence, Jörn Oliver Sass, et al.
Pageof 18