Metadata Search Funding Data Link References Status API Help
Facet browsing currently unavailable
Page 1 of 769584 results
Sort by: relevance publication year

Germinal mosaicism in Apert syndrome

JOURNAL ARTICLE published May 1986 in Clinical Genetics

Authors: Judith E. Allanson

Germinal mosaicism in Crouzon syndrome

JOURNAL ARTICLE published March 1988 in Clinical Genetics

Authors: B. R. Rollnick

Germinal mosaicism in Crouzon syndrome

JOURNAL ARTICLE published April 1990 in Human Genetics

Authors: Sven Kreiborg | M. Michael Cohen

Apert Syndrome

REFERENCE ENTRY published in SpringerReference

Apert syndrome

REFERENCE ENTRY published 10 February 2020 in Definitions

Authors: INSERM

Apert or Apert-Crouzon Syndrome

BOOK CHAPTER published 2008 in Encyclopedia of Genetics, Genomics, Proteomics and Informatics

Prenatal diagnosis in Coffin‐Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis

JOURNAL ARTICLE published October 2001 in Prenatal Diagnosis

Authors: Denise Horn | Jean‐Pierre Delaunoy | Jürgen Kunze

Prenatal diagnosis in Coffin‐Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis

JOURNAL ARTICLE published October 2001 in Prenatal Diagnosis

Authors: Denise Horn | Jean‐Pierre Delaunoy | Jürgen Kunze

Apert Syndrome

BOOK CHAPTER published in Abnormal Skeletal Phenotypes

Apert syndrome

REFERENCE ENTRY published 2 August 2010 in Radiopaedia.org

Authors: Jeremy Jones | Hani Salam

Apert syndrome

REFERENCE ENTRY published 22 July 2010 in Radiopaedia.org

Authors: Aanchal Agarwal | Yuranga Weerakkody

Apert syndrome

REFERENCE ENTRY published 11 June 2009 in Radiopaedia.org

Authors: Yusra Sheikh | Frank Gaillard

Apert syndrome

REFERENCE ENTRY published 11 June 2009 in Radiopaedia.org

Authors: Yusra Sheikh | Frank Gaillard

Apert Syndrome (MIM 101200)

BOOK CHAPTER published September 2012 in Bone Dysplasias

Authors: Jürgen W. Spranger | Paula W. Brill | Gen Nishimura | Andrea Superti-Furga | Sheila Unger

Germinal mosaicism in Crouzon syndrome. A family with three affected siblings of normal parents

JOURNAL ARTICLE published July 1991 in Clinical Genetics

Authors: Carmen Navarrete | Ramón Peña | Rosenda Peñaloza | Fabio Salamanca

Germinal Mosaicism

JOURNAL ARTICLE published July 1984 in Clinical Genetics

Authors: T. J. David

Apert Syndrome

BOOK CHAPTER published in Encyclopedia of Diagnostic Imaging

Apert syndrome - prenatal findings

REFERENCE ENTRY published 10 December 2018 in Radiopaedia.org

Authors: Henry Knipe | Fabien Ho

Apert Syndrome

BOOK CHAPTER published 2016 in Diagnostic Imaging: Obstetrics

Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I

JOURNAL ARTICLE published January 2018 in International Journal of Pediatric Otorhinolaryngology

Research funded by National Natural Science Foundation of China (81500802,81700912) | Natural Science Fund of Guangdong Province, China (2015A030310072,2016A030310286)

Authors: Kaitian Chen | Yuan Zhan | Xuan Wu | Ling Zong | Hongyan Jiang