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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.
Pediatric Surgery International
|
August 24, 2010
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
Charlotte H W Wijers, Ivo de Blaauw, Carlo L M Marcelis, 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.
American Journal of Medical Genetics. Part A
|
August 2, 2021
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
Caroline M Kolvenbach, Amelie T van der Ven, Franziska Kause, et al.
Kidney International Reports
|
April 14, 2025
Trio Exome Sequencing in VACTERL Association
Jasmina Ćomić, Erik Tilch, Korbinian M Riedhammer, 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.
European Journal of Human Genetics : EJHG
|
November 2, 2022
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
Julia Fabian, Gabriel C Dworschak, Lea Waffenschmidt, et al.
American Journal of Human Genetics
|
March 29, 2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate
Elisabeth Mangold, Anne C Böhmer, Nina Ishorst, et al.
Frontiers in Pediatrics
|
October 14, 2022
Genome-wide association study in patients with posterior urethral valves
Loes F M van der Zanden, Carlo Maj, Oleg Borisov, et al.
Molecular Genetics & Genomic Medicine
|
December 5, 2022
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores
Nina Ishorst, Leonie Henschel, Frederic Thieme, et al.
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of 21
Search research articles
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Showing results (181-190 of 209) with videos related to
Sort By:
Page
of 21
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.
Pediatric Surgery International
|
August 24, 2010
Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
Charlotte H W Wijers, Ivo de Blaauw, Carlo L M Marcelis, 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.
American Journal of Medical Genetics. Part A
|
August 2, 2021
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
Caroline M Kolvenbach, Amelie T van der Ven, Franziska Kause, et al.
Kidney International Reports
|
April 14, 2025
Trio Exome Sequencing in VACTERL Association
Jasmina Ćomić, Erik Tilch, Korbinian M Riedhammer, 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.
European Journal of Human Genetics : EJHG
|
November 2, 2022
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
Julia Fabian, Gabriel C Dworschak, Lea Waffenschmidt, et al.
American Journal of Human Genetics
|
March 29, 2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate
Elisabeth Mangold, Anne C Böhmer, Nina Ishorst, et al.
Frontiers in Pediatrics
|
October 14, 2022
Genome-wide association study in patients with posterior urethral valves
Loes F M van der Zanden, Carlo Maj, Oleg Borisov, et al.
Molecular Genetics & Genomic Medicine
|
December 5, 2022
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores
Nina Ishorst, Leonie Henschel, Frederic Thieme, et al.
Page
of 21