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American Journal of Medical Genetics. Part A
|
September 17, 2013
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations
Gabriel C Dworschak, Markus Draaken, Carlo Marcelis, et al.
European Journal of Human Genetics : EJHG
|
April 4, 2013
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
Alina Hilger, Charlotte Schramm, Tracie Pennimpede, et al.
The Journal of Pediatrics
|
June 18, 2011
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe
Heiko Reutter, Simeon A Boyadjiev, Lisa Gambhir, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
April 26, 2014
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region
Markus Draaken, Friederike Baudisch, Bernd Timmermann, et al.
Birth Defects Research
|
June 13, 2017
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations
Rong Zhang, Florian Marsch, Franziska Kause, et al.
Clinical Dysmorphology
|
August 17, 2012
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis
Enrika Bartels, Anna C Schulz, Nicole W Mora, et al.
European Journal of Human Genetics : EJHG
|
July 21, 2016
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
Erwin Brosens, Florian Marsch, Elisabeth M de Jong, et al.
Human Molecular Genetics
|
May 24, 2014
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder
Heiko Reutter, Markus Draaken, Tracie Pennimpede, et al.
Nature Genetics
|
June 5, 2023
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model
Katherine A Waugh, Ross Minter, Jessica Baxter, et al.
Kidney International
|
October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
Pawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.
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of 24
Search research articles
Search
Showing results (221-230 of 239) with videos related to
Sort By:
Page
of 24
American Journal of Medical Genetics. Part A
|
September 17, 2013
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations
Gabriel C Dworschak, Markus Draaken, Carlo Marcelis, et al.
European Journal of Human Genetics : EJHG
|
April 4, 2013
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association
Alina Hilger, Charlotte Schramm, Tracie Pennimpede, et al.
The Journal of Pediatrics
|
June 18, 2011
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe
Heiko Reutter, Simeon A Boyadjiev, Lisa Gambhir, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
April 26, 2014
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region
Markus Draaken, Friederike Baudisch, Bernd Timmermann, et al.
Birth Defects Research
|
June 13, 2017
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations
Rong Zhang, Florian Marsch, Franziska Kause, et al.
Clinical Dysmorphology
|
August 17, 2012
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis
Enrika Bartels, Anna C Schulz, Nicole W Mora, et al.
European Journal of Human Genetics : EJHG
|
July 21, 2016
Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
Erwin Brosens, Florian Marsch, Elisabeth M de Jong, et al.
Human Molecular Genetics
|
May 24, 2014
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder
Heiko Reutter, Markus Draaken, Tracie Pennimpede, et al.
Nature Genetics
|
June 5, 2023
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model
Katherine A Waugh, Ross Minter, Jessica Baxter, et al.
Kidney International
|
October 25, 2013
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
Pawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.
Page
of 24