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International Journal of Molecular Sciences
|
August 29, 2024
Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay
Nina-Maria Wilpert, Roma Thamm, Michael Thamm, et al.
NPJ Genomic Medicine
|
November 4, 2024
Alternative splicing is coupled to gene expression in a subset of variably expressed genes
Guy Karlebach, Robin Steinhaus, Daniel Danis, et al.
Biorxiv : the Preprint Server for Biology
|
July 3, 2023
Alternative splicing is coupled to gene expression in a subset of variably expressed genes
Guy Karlebach, Robin Steinhaus, Daniel Danis, et al.
Molecular and Cellular Probes
|
August 10, 2010
Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene
Regina Kropatsch, Elisabeth Petrasch-Parwez, Dominik Seelow, et al.
Neurology. Genetics
|
April 12, 2016
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy
Gudrun Schottmann, Dominik Seelow, Franziska Seifert, et al.
Journal of Medical Genetics
|
November 30, 2018
De novo mutation in <i>ELOVL1</i> causes ichthyosis, <i>acanthosis nigricans</i>, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, et al.
European Journal of Medical Genetics
|
June 8, 2020
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome
Felix Boschann, Björn Fischer-Zirnsak, Thomas F Wienker, et al.
Plos Genetics
|
March 20, 2010
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
Anna Rajab, Volker Straub, Liza J McCann, et al.
Matrix Biology : Journal of the International Society for Matrix Biology
|
May 14, 2013
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype
Melanie Grosch, Barbara Grüner, Stephanie Spranger, et al.
Nucleic Acids Research
|
April 28, 2020
VarFish: comprehensive DNA variant analysis for diagnostics and research
Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, et al.
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Search research articles
Search
Showing results (31-40 of 62) with videos related to
Sort By:
Page
of 7
International Journal of Molecular Sciences
|
August 29, 2024
Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay
Nina-Maria Wilpert, Roma Thamm, Michael Thamm, et al.
NPJ Genomic Medicine
|
November 4, 2024
Alternative splicing is coupled to gene expression in a subset of variably expressed genes
Guy Karlebach, Robin Steinhaus, Daniel Danis, et al.
Biorxiv : the Preprint Server for Biology
|
July 3, 2023
Alternative splicing is coupled to gene expression in a subset of variably expressed genes
Guy Karlebach, Robin Steinhaus, Daniel Danis, et al.
Molecular and Cellular Probes
|
August 10, 2010
Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene
Regina Kropatsch, Elisabeth Petrasch-Parwez, Dominik Seelow, et al.
Neurology. Genetics
|
April 12, 2016
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy
Gudrun Schottmann, Dominik Seelow, Franziska Seifert, et al.
Journal of Medical Genetics
|
November 30, 2018
De novo mutation in <i>ELOVL1</i> causes ichthyosis, <i>acanthosis nigricans</i>, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, et al.
European Journal of Medical Genetics
|
June 8, 2020
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome
Felix Boschann, Björn Fischer-Zirnsak, Thomas F Wienker, et al.
Plos Genetics
|
March 20, 2010
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
Anna Rajab, Volker Straub, Liza J McCann, et al.
Matrix Biology : Journal of the International Society for Matrix Biology
|
May 14, 2013
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype
Melanie Grosch, Barbara Grüner, Stephanie Spranger, et al.
Nucleic Acids Research
|
April 28, 2020
VarFish: comprehensive DNA variant analysis for diagnostics and research
Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, et al.
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of 7