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C Hilger

Showing results (81-90 of 93) with videos related to

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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.
European Journal of Human Genetics : EJHG|November 2, 2022
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformationsJulia Fabian, Gabriel C Dworschak, Lea Waffenschmidt, et al.
Frontiers in Pediatrics|October 14, 2022
Genome-wide association study in patients with posterior urethral valvesLoes F M van der Zanden, Carlo Maj, Oleg Borisov, et al.
European Urology Open Science|October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary TractChen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, 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.
American Journal of Human Genetics|May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract ObstructionCaroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.
Journal of Medical Genetics|December 23, 2024
<i>TFAP2E</i> is implicated in central nervous system, orofacial and maxillofacial anomaliesJeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.
Frontiers in Cell and Developmental Biology|August 28, 2020
<i>SLC20A1</i> Is Involved in Urinary Tract and Urorectal DevelopmentJohanna Magdalena Rieke, Rong Zhang, Doreen Braun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2025
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT familiesLea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.
Pageof 10

Showing results (81-90 of 93) with videos related to

Sort By:
Pageof 10
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.
European Journal of Human Genetics : EJHG|November 2, 2022
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformationsJulia Fabian, Gabriel C Dworschak, Lea Waffenschmidt, et al.
Frontiers in Pediatrics|October 14, 2022
Genome-wide association study in patients with posterior urethral valvesLoes F M van der Zanden, Carlo Maj, Oleg Borisov, et al.
European Urology Open Science|October 3, 2022
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary TractChen-Han Wilfred Wu, Tze Y Lim, Chunyan Wang, 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.
American Journal of Human Genetics|May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract ObstructionCaroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.
Journal of Medical Genetics|December 23, 2024
<i>TFAP2E</i> is implicated in central nervous system, orofacial and maxillofacial anomaliesJeshurun C Kalanithy, Enrico Mingardo, Jil D Stegmann, et al.
Frontiers in Cell and Developmental Biology|August 28, 2020
<i>SLC20A1</i> Is Involved in Urinary Tract and Urorectal DevelopmentJohanna Magdalena Rieke, Rong Zhang, Doreen Braun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2025
Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT familiesLea Maria Merz, Caroline M Kolvenbach, Chunyan Wang, et al.
Pageof 10