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European Journal of Human Genetics : EJHG
|
January 5, 2017
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study
Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, et al.
International Archives of Allergy and Immunology
|
October 23, 2022
CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis
Lisa Olfe, Sandra von Hardenberg, Winfried Hofmann, et al.
Molecular Genetics & Genomic Medicine
|
November 15, 2019
From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing
Jana Lisa van Luttikhuizen, Janin Bublitz, Stephanie Schubert, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|
May 13, 2022
High prevalence of reduced fertility and use of assisted reproductive technology in a German cohort of patients with peripartum cardiomyopathy
Tobias J Pfeffer, Manuel List, Cordula Schippert, et al.
European Respiratory Review : an Official Journal of the European Respiratory Society
|
March 10, 2022
Interstitial lung disease in infancy and early childhood: a clinicopathological primer
Florian Peter Laenger, Nicolaus Schwerk, Jens Dingemann, et al.
International Journal of Cardiology
|
March 14, 2023
Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry
Tobias J Pfeffer, Bernd Auber, Brigitte Pabst, et al.
American Journal of Medical Genetics. Part A
|
December 6, 2011
A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect
Moneef Shoukier, Julia Wickert, Julia Schröder, et al.
Cells
|
November 24, 2023
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype
Ben O Staar, Jan Hegermann, Bernd Auber, et al.
Molecular Endocrinology (Baltimore, Md.)
|
May 3, 2008
Leupaxin, a novel coactivator of the androgen receptor, is expressed in prostate cancer and plays a role in adhesion and invasion of prostate carcinoma cells
Silke Kaulfuss, Michal Grzmil, Bernhard Hemmerlein, et al.
British Journal of Haematology
|
October 8, 2024
Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy
Holger Cario, Alexis Bertrand, Shengjiang Tan, et al.
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Search research articles
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Showing results (21-30 of 75) with videos related to
Sort By:
Page
of 8
European Journal of Human Genetics : EJHG
|
January 5, 2017
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study
Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, et al.
International Archives of Allergy and Immunology
|
October 23, 2022
CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis
Lisa Olfe, Sandra von Hardenberg, Winfried Hofmann, et al.
Molecular Genetics & Genomic Medicine
|
November 15, 2019
From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing
Jana Lisa van Luttikhuizen, Janin Bublitz, Stephanie Schubert, et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|
May 13, 2022
High prevalence of reduced fertility and use of assisted reproductive technology in a German cohort of patients with peripartum cardiomyopathy
Tobias J Pfeffer, Manuel List, Cordula Schippert, et al.
European Respiratory Review : an Official Journal of the European Respiratory Society
|
March 10, 2022
Interstitial lung disease in infancy and early childhood: a clinicopathological primer
Florian Peter Laenger, Nicolaus Schwerk, Jens Dingemann, et al.
International Journal of Cardiology
|
March 14, 2023
Prevalence of HSPB6 gene variants in peripartum cardiomyopathy: Data from the German PPCM registry
Tobias J Pfeffer, Bernd Auber, Brigitte Pabst, et al.
American Journal of Medical Genetics. Part A
|
December 6, 2011
A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect
Moneef Shoukier, Julia Wickert, Julia Schröder, et al.
Cells
|
November 24, 2023
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype
Ben O Staar, Jan Hegermann, Bernd Auber, et al.
Molecular Endocrinology (Baltimore, Md.)
|
May 3, 2008
Leupaxin, a novel coactivator of the androgen receptor, is expressed in prostate cancer and plays a role in adhesion and invasion of prostate carcinoma cells
Silke Kaulfuss, Michal Grzmil, Bernhard Hemmerlein, et al.
British Journal of Haematology
|
October 8, 2024
Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy
Holger Cario, Alexis Bertrand, Shengjiang Tan, et al.
Page
of 8