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Human Molecular Genetics
|
September 21, 2007
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells
Sebastian Kandert, Yvonne Lüke, Tobias Kleinhenz, et al.
Blood
|
December 13, 2005
Lack of F8 mRNA: a novel mechanism leading to hemophilia A
Osman El-Maarri, Heike Singer, Claudia Klein, et al.
Nature
|
February 7, 2004
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2
Simone Rost, Andreas Fregin, Vytautas Ivaskevicius, et al.
Biological Chemistry
|
April 22, 2005
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3
Dieter E Jenne, Rudi A Kley, Matthias Vorgerd, et al.
Neurology
|
July 23, 2017
Early and lethal neurodegeneration with myasthenic and myopathic features: A new <i>ALG14</i>-CDG
David C Schorling, Simone Rost, Dirk J Lefeber, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 17, 2018
Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication
Juliane Lippert, Silke Appenzeller, Raimunde Liang, et al.
Brain : a Journal of Neurology
|
May 8, 2007
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
Haiyan Zhou, Heinz Jungbluth, Caroline A Sewry, et al.
JAMA Oncology
|
December 30, 2016
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer
Guido Neidhardt, Jan Hauke, Juliane Ramser, et al.
Breast Cancer Research : BCR
|
January 26, 2018
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Nana Weber-Lassalle, Jan Hauke, Juliane Ramser, et al.
Human Mutation
|
May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Michael T Parsons, Emma Tudini, Hongyan Li, et al.
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Search research articles
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Showing results (31-40 of 40) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 40 results.
Human Molecular Genetics
|
September 21, 2007
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells
Sebastian Kandert, Yvonne Lüke, Tobias Kleinhenz, et al.
Blood
|
December 13, 2005
Lack of F8 mRNA: a novel mechanism leading to hemophilia A
Osman El-Maarri, Heike Singer, Claudia Klein, et al.
Nature
|
February 7, 2004
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2
Simone Rost, Andreas Fregin, Vytautas Ivaskevicius, et al.
Biological Chemistry
|
April 22, 2005
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3
Dieter E Jenne, Rudi A Kley, Matthias Vorgerd, et al.
Neurology
|
July 23, 2017
Early and lethal neurodegeneration with myasthenic and myopathic features: A new <i>ALG14</i>-CDG
David C Schorling, Simone Rost, Dirk J Lefeber, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 17, 2018
Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication
Juliane Lippert, Silke Appenzeller, Raimunde Liang, et al.
Brain : a Journal of Neurology
|
May 8, 2007
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
Haiyan Zhou, Heinz Jungbluth, Caroline A Sewry, et al.
JAMA Oncology
|
December 30, 2016
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer
Guido Neidhardt, Jan Hauke, Juliane Ramser, et al.
Breast Cancer Research : BCR
|
January 26, 2018
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer
Nana Weber-Lassalle, Jan Hauke, Juliane Ramser, et al.
Human Mutation
|
May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Michael T Parsons, Emma Tudini, Hongyan Li, et al.
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of 4