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The Journal of Clinical Endocrinology and Metabolism
|
March 16, 2013
Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas
Elena Beristain, Maria-Angeles Vicente, Isabel Guerra, et al.
Biomolecular Concepts
|
January 13, 2015
Multilocus methylation defects in imprinting disorders
Deborah J G Mackay, Thomas Eggermann, Karin Buiting, et al.
American Journal of Medical Genetics. Part A
|
December 8, 2015
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review
Cecile Thomas-Teinturier, Arrate Pereda, Intza Garin, et al.
American Journal of Medical Genetics. Part A
|
October 16, 2010
Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations
Oihana Belar, Jaime Sanchez Del Pozo, Marta Moreno-García, et al.
Clinical Endocrinology
|
April 9, 2008
New mutation type in pseudohypoparathyroidism type Ia
Eduardo Fernandez-Rebollo, Raquel Barrio, Gustavo Pérez-Nanclares, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
November 16, 2010
Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report
Javier de las Heras, Intza Garin, Guiomar Perez de Nanclares, et al.
Orphanet Journal of Rare Diseases
|
September 14, 2013
Brachydactyly E: isolated or as a feature of a syndrome
Arrate Pereda, Intza Garin, Maria Garcia-Barcina, et al.
American Journal of Medical Genetics. Part A
|
February 18, 2017
The p.R56* mutation in PTHLH causes variable brachydactyly type E
Arrate Pereda, Lucia Garzon-Lorenzo, Intza Garin, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 3, 2010
Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels
Qing Zhou, Intza Garin, Luis Castaño, et al.
Journal of Human Genetics
|
January 6, 2012
Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features
Sonia Mayo, Intza Garin, Sandra Monfort, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 36) with videos related to
Sort By:
Page
of 4
The Journal of Clinical Endocrinology and Metabolism
|
March 16, 2013
Disomy as the genetic underlying mechanisms of loss of heterozigosity in SDHD-paragangliomas
Elena Beristain, Maria-Angeles Vicente, Isabel Guerra, et al.
Biomolecular Concepts
|
January 13, 2015
Multilocus methylation defects in imprinting disorders
Deborah J G Mackay, Thomas Eggermann, Karin Buiting, et al.
American Journal of Medical Genetics. Part A
|
December 8, 2015
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review
Cecile Thomas-Teinturier, Arrate Pereda, Intza Garin, et al.
American Journal of Medical Genetics. Part A
|
October 16, 2010
Clinical characterization of a girl with trisomy 20q13.2qter and monosomy 13q33.1qter: Delineating phenotype-genotype correlations
Oihana Belar, Jaime Sanchez Del Pozo, Marta Moreno-García, et al.
Clinical Endocrinology
|
April 9, 2008
New mutation type in pseudohypoparathyroidism type Ia
Eduardo Fernandez-Rebollo, Raquel Barrio, Gustavo Pérez-Nanclares, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
November 16, 2010
Familial hyperinsulinism-hyperammonemia syndrome in a family with seizures: case report
Javier de las Heras, Intza Garin, Guiomar Perez de Nanclares, et al.
Orphanet Journal of Rare Diseases
|
September 14, 2013
Brachydactyly E: isolated or as a feature of a syndrome
Arrate Pereda, Intza Garin, Maria Garcia-Barcina, et al.
American Journal of Medical Genetics. Part A
|
February 18, 2017
The p.R56* mutation in PTHLH causes variable brachydactyly type E
Arrate Pereda, Lucia Garzon-Lorenzo, Intza Garin, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 3, 2010
Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels
Qing Zhou, Intza Garin, Luis Castaño, et al.
Journal of Human Genetics
|
January 6, 2012
Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features
Sonia Mayo, Intza Garin, Sandra Monfort, et al.
Page
of 4