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Udo Koehler

Showing results (21-30 of 26) with videos related to

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Orphanet Journal of Rare Diseases|September 24, 2013
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityJohanna Christina Czeschik, Peter Bauer, Karin Buiting, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
Genetic Testing|June 10, 2005
Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) familiesMonika Grabowski, Yvonne Mueller-Koch, Eva Grasbon-Frodl, et al.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
European Journal of Human Genetics : EJHG|October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspectiveLiselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.
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Showing results (21-30 of 26) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 26 results.
Orphanet Journal of Rare Diseases|September 24, 2013
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entityJohanna Christina Czeschik, Peter Bauer, Karin Buiting, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
Genetic Testing|June 10, 2005
Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) familiesMonika Grabowski, Yvonne Mueller-Koch, Eva Grasbon-Frodl, et al.
Journal of Medical Genetics|September 29, 2011
Phenotypic spectrum associated with CASK loss-of-function mutationsUte Moog, Kerstin Kutsche, Fanny Kortüm, et al.
European Journal of Human Genetics : EJHG|October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspectiveLiselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Human Genetics|March 12, 2017
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPUChristel Depienne, Caroline Nava, Boris Keren, et al.
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