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Michael Ludwig

Showing results (221-230 of 239) with videos related to

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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 malformationsGabriel 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 associationAlina 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 EuropeHeiko 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 regionMarkus 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 variationsRong 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 analysisEnrika 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 fistulaErwin 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 bladderHeiko 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 modelKatherine 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 associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.
Pageof 24

Showing results (221-230 of 239) with videos related to

Sort By:
Pageof 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 malformationsGabriel 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 associationAlina 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 EuropeHeiko 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 regionMarkus 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 variationsRong 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 analysisEnrika 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 fistulaErwin 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 bladderHeiko 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 modelKatherine 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 associationPawaree Saisawat, Stefan Kohl, Alina C Hilger, et al.
Pageof 24