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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
October 15, 2013
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies
David E Clouthier, Maria Rita Passos-Bueno, Andre L P Tavares, et al.
Pediatric Blood & Cancer
|
January 14, 2025
Familial History in Ovarian Teratomas Is a Frequent Event: 22 Years' Experience at a Single Center
Cécile Olivia Muller, Fanny Delehaye, Christopher T Gordon, et al.
Plos One
|
October 22, 2013
bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1
Kerry A Miller, Christopher T Gordon, Megan F Welfare, et al.
Orphanet Journal of Rare Diseases
|
June 25, 2015
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
Katja Stange, Julie Désir, Naseebullah Kakar, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 24, 2018
Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism
Dong Li, Christopher T Gordon, Myriam Oufadem, et al.
American Journal of Medical Genetics. Part A
|
March 24, 2016
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation
Chiara Leoni, Christopher T Gordon, Giacomo Della Marca, et al.
American Journal of Medical Genetics. Part A
|
November 22, 2017
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence
Christopher T Gordon, Maya Chopra, Myriam Oufadem, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2021
Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al
Florence Riccardi, Alexandre Astier, Margot Grisval, et al.
American Journal of Medical Genetics. Part A
|
April 21, 2019
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis
Anne Guimier, Christopher T Gordon, Marie Hully, et al.
Prenatal Diagnosis
|
September 27, 2017
Efficiency of prenatal diagnosis in Pierre Robin sequence
Elvira Di Pasquo, Jeanne Amiel, Philippe Roth, et al.
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of 9
Search research articles
Search
Showing results (11-20 of 84) with videos related to
Sort By:
Page
of 9
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
October 15, 2013
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies
David E Clouthier, Maria Rita Passos-Bueno, Andre L P Tavares, et al.
Pediatric Blood & Cancer
|
January 14, 2025
Familial History in Ovarian Teratomas Is a Frequent Event: 22 Years' Experience at a Single Center
Cécile Olivia Muller, Fanny Delehaye, Christopher T Gordon, et al.
Plos One
|
October 22, 2013
bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1
Kerry A Miller, Christopher T Gordon, Megan F Welfare, et al.
Orphanet Journal of Rare Diseases
|
June 25, 2015
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
Katja Stange, Julie Désir, Naseebullah Kakar, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 24, 2018
Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism
Dong Li, Christopher T Gordon, Myriam Oufadem, et al.
American Journal of Medical Genetics. Part A
|
March 24, 2016
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation
Chiara Leoni, Christopher T Gordon, Giacomo Della Marca, et al.
American Journal of Medical Genetics. Part A
|
November 22, 2017
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence
Christopher T Gordon, Maya Chopra, Myriam Oufadem, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 3, 2021
Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al
Florence Riccardi, Alexandre Astier, Margot Grisval, et al.
American Journal of Medical Genetics. Part A
|
April 21, 2019
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis
Anne Guimier, Christopher T Gordon, Marie Hully, et al.
Prenatal Diagnosis
|
September 27, 2017
Efficiency of prenatal diagnosis in Pierre Robin sequence
Elvira Di Pasquo, Jeanne Amiel, Philippe Roth, et al.
Page
of 9