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European Journal of Human Genetics : EJHG
|
October 7, 2006
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
Christian H Brenk, Eva-Christina Prott, Detlef Trost, et al.
Prenatal Diagnosis
|
September 3, 2016
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome
Christina Kehrer, Alexander Hoischen, Ralf Menkhaus, et al.
American Journal of Human Genetics
|
June 10, 2015
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
Rocio Acuna-Hidalgo, Tan Bo, Michael P Kwint, et al.
American Journal of Human Genetics
|
July 4, 2017
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life
Rocio Acuna-Hidalgo, Hilal Sengul, Marloes Steehouwer, et al.
Human Molecular Genetics
|
May 5, 2007
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Antje Brockschmidt, Unda Todt, Soojin Ryu, et al.
Frontiers in Microbiology
|
March 22, 2013
A novel marine nitrite-oxidizing Nitrospira species from Dutch coastal North Sea water
Suzanne C M Haaijer, Ke Ji, Laura van Niftrik, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 8, 2014
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis
Wybrich R Cnossen, René H M te Morsche, Alexander Hoischen, et al.
Journal of the American Heart Association
|
January 12, 2024
Association Between Clonal Hematopoiesis Driver Mutations, Immune Cell Function, and the Vasculometabolic Complications of Obesity
Helin Tercan, Benjamin C Cossins, Rosanne C van Deuren, et al.
British Journal of Cancer
|
August 24, 2024
IMPRESS: Improved methylation profiling using restriction enzymes and smMIP sequencing, combined with a new biomarker panel, creating a multi-cancer detection assay
Janah Vandenhoeck, Isabelle Neefs, Thomas Vanpoucke, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2021
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes
Erik Fransen, Hanne Valgaeren, Katleen Janssens, et al.
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Search research articles
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Showing results (41-50 of 249) with videos related to
Sort By:
Page
of 25
European Journal of Human Genetics : EJHG
|
October 7, 2006
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
Christian H Brenk, Eva-Christina Prott, Detlef Trost, et al.
Prenatal Diagnosis
|
September 3, 2016
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome
Christina Kehrer, Alexander Hoischen, Ralf Menkhaus, et al.
American Journal of Human Genetics
|
June 10, 2015
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
Rocio Acuna-Hidalgo, Tan Bo, Michael P Kwint, et al.
American Journal of Human Genetics
|
July 4, 2017
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life
Rocio Acuna-Hidalgo, Hilal Sengul, Marloes Steehouwer, et al.
Human Molecular Genetics
|
May 5, 2007
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Antje Brockschmidt, Unda Todt, Soojin Ryu, et al.
Frontiers in Microbiology
|
March 22, 2013
A novel marine nitrite-oxidizing Nitrospira species from Dutch coastal North Sea water
Suzanne C M Haaijer, Ke Ji, Laura van Niftrik, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 8, 2014
Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis
Wybrich R Cnossen, René H M te Morsche, Alexander Hoischen, et al.
Journal of the American Heart Association
|
January 12, 2024
Association Between Clonal Hematopoiesis Driver Mutations, Immune Cell Function, and the Vasculometabolic Complications of Obesity
Helin Tercan, Benjamin C Cossins, Rosanne C van Deuren, et al.
British Journal of Cancer
|
August 24, 2024
IMPRESS: Improved methylation profiling using restriction enzymes and smMIP sequencing, combined with a new biomarker panel, creating a multi-cancer detection assay
Janah Vandenhoeck, Isabelle Neefs, Thomas Vanpoucke, et al.
European Journal of Human Genetics : EJHG
|
March 19, 2021
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes
Erik Fransen, Hanne Valgaeren, Katleen Janssens, et al.
Page
of 25