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American Journal of Human Genetics
|
May 8, 2012
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome
Mark J Rieder, Glenn E Green, Sarah S Park, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome
Vanessa L Romanelli Tavares, Roseli M Zechi-Ceide, Debora R Bertola, et al.
European Journal of Human Genetics : EJHG
|
July 17, 2014
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
Vanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, et al.
Nature Communications
|
February 6, 2021
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Víctor Faundes, Martin D Jennings, Siobhan Crilly, et al.
Nature Communications
|
August 8, 2018
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
Johanne Dubail, Céline Huber, Sandrine Chantepie, et al.
European Journal of Human Genetics : EJHG
|
January 14, 2018
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
Jean-Luc Alessandri, Christopher T Gordon, Marie-Line Jacquemont, et al.
American Journal of Human Genetics
|
August 16, 2016
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy
Anne Guimier, Christopher T Gordon, François Godard, et al.
American Journal of Human Genetics
|
April 2, 2013
Mutations in KCTD1 cause scalp-ear-nipple syndrome
Alexander G Marneros, Anita E Beck, Emily H Turner, et al.
Nucleic Acids Research
|
January 31, 2019
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite
Camille Dion, Stéphane Roche, Camille Laberthonnière, et al.
American Journal of Human Genetics
|
November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
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of 9
Search research articles
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Showing results (41-50 of 84) with videos related to
Sort By:
Page
of 9
American Journal of Human Genetics
|
May 8, 2012
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome
Mark J Rieder, Glenn E Green, Sarah S Park, et al.
American Journal of Medical Genetics. Part A
|
March 23, 2017
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome
Vanessa L Romanelli Tavares, Roseli M Zechi-Ceide, Debora R Bertola, et al.
European Journal of Human Genetics : EJHG
|
July 17, 2014
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
Vanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, et al.
Nature Communications
|
February 6, 2021
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Víctor Faundes, Martin D Jennings, Siobhan Crilly, et al.
Nature Communications
|
August 8, 2018
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
Johanne Dubail, Céline Huber, Sandrine Chantepie, et al.
European Journal of Human Genetics : EJHG
|
January 14, 2018
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome
Jean-Luc Alessandri, Christopher T Gordon, Marie-Line Jacquemont, et al.
American Journal of Human Genetics
|
August 16, 2016
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy
Anne Guimier, Christopher T Gordon, François Godard, et al.
American Journal of Human Genetics
|
April 2, 2013
Mutations in KCTD1 cause scalp-ear-nipple syndrome
Alexander G Marneros, Anita E Beck, Emily H Turner, et al.
Nucleic Acids Research
|
January 31, 2019
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite
Camille Dion, Stéphane Roche, Camille Laberthonnière, et al.
American Journal of Human Genetics
|
November 14, 2023
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Eden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Page
of 9