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Orphanet Journal of Rare Diseases
|
January 28, 2018
Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, et al.
Gene
|
September 18, 2012
Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome
André Kidszun, Anne-Jule Fuchs, Alexandra Russo, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome
Oliver Bartsch, Eberhard Schneider, Natalja Damatova, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature
Anne Behnecke, Katrin Hinderhofer, Oliver Bartsch, et al.
Genes, Chromosomes & Cancer
|
April 20, 2005
A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis
Claudia Backsch, Bettina Rudolph, Rosemarie Kühne-Heid, et al.
Ear and Hearing
|
February 6, 2016
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene
Barbara Vona, Stanislav Lechno, Michaela A H Hofrichter, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2004
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies
Daniela Ehling, Ingo Kennerknecht, Annelore Junge, et al.
Ebiomedicine
|
July 3, 2015
Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR
Christoph Wilmanns, Alexis Cooper, Leesa Wockner, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
December 10, 2020
A Highly Specific Assay for the Detection of SARS-CoV-2-Reactive CD4<sup>+</sup> and CD8<sup>+</sup> T Cells in COVID-19 Patients
Henning Zelba, David Worbs, Johannes Harter, et al.
Epigenetics
|
March 8, 2016
CAF-like state in primary skin fibroblasts with constitutional BRCA1 epimutation sheds new light on tumor suppressor deficiency-related changes in healthy tissue
Anna Etzold, Danuta Galetzka, Eva Weis, et al.
Page
of 12
Search research articles
Search
Showing results (61-70 of 118) with videos related to
Sort By:
Page
of 12
Orphanet Journal of Rare Diseases
|
January 28, 2018
Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, et al.
Gene
|
September 18, 2012
Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome
André Kidszun, Anne-Jule Fuchs, Alexandra Russo, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome
Oliver Bartsch, Eberhard Schneider, Natalja Damatova, et al.
American Journal of Medical Genetics. Part A
|
January 29, 2011
Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature
Anne Behnecke, Katrin Hinderhofer, Oliver Bartsch, et al.
Genes, Chromosomes & Cancer
|
April 20, 2005
A region on human chromosome 4 (q35.1-->qter) induces senescence in cell hybrids and is involved in cervical carcinogenesis
Claudia Backsch, Bettina Rudolph, Rosemarie Kühne-Heid, et al.
Ear and Hearing
|
February 6, 2016
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene
Barbara Vona, Stanislav Lechno, Michaela A H Hofrichter, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2004
Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies
Daniela Ehling, Ingo Kennerknecht, Annelore Junge, et al.
Ebiomedicine
|
July 3, 2015
Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR
Christoph Wilmanns, Alexis Cooper, Leesa Wockner, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
December 10, 2020
A Highly Specific Assay for the Detection of SARS-CoV-2-Reactive CD4<sup>+</sup> and CD8<sup>+</sup> T Cells in COVID-19 Patients
Henning Zelba, David Worbs, Johannes Harter, et al.
Epigenetics
|
March 8, 2016
CAF-like state in primary skin fibroblasts with constitutional BRCA1 epimutation sheds new light on tumor suppressor deficiency-related changes in healthy tissue
Anna Etzold, Danuta Galetzka, Eva Weis, et al.
Page
of 12