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Alice S Brooks

Showing results (11-20 of 62) with videos related to

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European Journal of Medical Genetics|June 13, 2017
Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesityJeroen Knijnenburg, Madiek E W Uytdewilligen, Daniella A C M van Hassel, et al.
Genes|October 23, 2021
Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula AetiologyErwin Brosens, Rutger W W Brouwer, Hannie Douben, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2012
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutationsChristine S van der Werf, Yunia Sribudiani, Joke B G M Verheij, et al.
Developmental Biology|July 19, 2016
Genetics of enteric neuropathiesErwin Brosens, Alan J Burns, Alice S Brooks, et al.
Molecular Genetics & Genomic Medicine|June 27, 2020
Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypesFenja Markus, Chloé Angelini, Aurelien Trimouille, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
Structural and numerical changes of chromosome X in patients with esophageal atresiaErwin Brosens, Elisabeth M de Jong, Tahsin Stefan Barakat, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
American Journal of Human Genetics|March 11, 2005
Identifying candidate Hirschsprung disease-associated RET variantsGrzegorz M Burzynski, Ilja M Nolte, Agnes Bronda, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticistGrazia M S Mancini, Daphne J Smits, Jordy Dekker, et al.
Frontiers in Cell and Developmental Biology|July 25, 2022
<i>TFAP2B</i> Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstructionAlmira Zada, Laura E Kuil, Bianca M de Graaf, et al.
Pageof 7

Showing results (11-20 of 62) with videos related to

Sort By:
Pageof 7
European Journal of Medical Genetics|June 13, 2017
Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesityJeroen Knijnenburg, Madiek E W Uytdewilligen, Daniella A C M van Hassel, et al.
Genes|October 23, 2021
Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula AetiologyErwin Brosens, Rutger W W Brouwer, Hannie Douben, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 6, 2012
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutationsChristine S van der Werf, Yunia Sribudiani, Joke B G M Verheij, et al.
Developmental Biology|July 19, 2016
Genetics of enteric neuropathiesErwin Brosens, Alan J Burns, Alice S Brooks, et al.
Molecular Genetics & Genomic Medicine|June 27, 2020
Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypesFenja Markus, Chloé Angelini, Aurelien Trimouille, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
Structural and numerical changes of chromosome X in patients with esophageal atresiaErwin Brosens, Elisabeth M de Jong, Tahsin Stefan Barakat, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
American Journal of Human Genetics|March 11, 2005
Identifying candidate Hirschsprung disease-associated RET variantsGrzegorz M Burzynski, Ilja M Nolte, Agnes Bronda, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticistGrazia M S Mancini, Daphne J Smits, Jordy Dekker, et al.
Frontiers in Cell and Developmental Biology|July 25, 2022
<i>TFAP2B</i> Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstructionAlmira Zada, Laura E Kuil, Bianca M de Graaf, et al.
Pageof 7