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Ben C J Hamel

Showing results (1-10 of 49) with videos related to

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Nature Reviews. Genetics|January 5, 2005
X-linked mental retardationH-Hilger Ropers, Ben C J Hamel
American Journal of Medical Genetics|October 3, 2002
P63 gene mutations and human developmental syndromesHan G Brunner, Ben C J Hamel, Hans van Bokhoven Hv
European Journal of Human Genetics : EJHG|June 15, 2007
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndromeBert B A de Vries, Gerard Pals, Roelof Odink, et al.
Case Reports in Genetics|January 11, 2013
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL MutationRose H Mende, David P Drake, Raimos M Olomi, et al.
Singapore Medical Journal|April 3, 2013
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patientsFarmaditya E P Mundhofir, Erik A Sistermans, Sultana M H Faradz, et al.
Case Reports in Genetics|May 11, 2017
Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern TanzaniaElichilia R Shao, Lucas F Kiyegi, Amos O Mwasamwaja, et al.
Pediatric Neurology|April 17, 2004
Novel mutations in three patients with LGMD2C with phenotypic differencesSascha Vermeer, Aad Verrips, Michèl A A P Willemsen, et al.
American Journal of Medical Genetics|February 22, 2002
Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasiaErnie M H F Bongers, Hans van Bokhoven, Nine V A M Knoers, et al.
American Journal of Medical Genetics|October 3, 2002
FGFs, their receptors, and human limb malformations: clinical and molecular correlationsAndrew O M Wilkie, Susannah J Patey, Shih-Hsin Kan, et al.
American Journal of Medical Genetics. Part A|July 28, 2019
Ellis-van Creveld syndrome in a patient from TanzaniaMarieke C J Dekker, Adnan M Sadiq, Mubashir A Jusabani, et al.
Pageof 5

Showing results (1-10 of 49) with videos related to

Sort By:
Pageof 5
Nature Reviews. Genetics|January 5, 2005
X-linked mental retardationH-Hilger Ropers, Ben C J Hamel
American Journal of Medical Genetics|October 3, 2002
P63 gene mutations and human developmental syndromesHan G Brunner, Ben C J Hamel, Hans van Bokhoven Hv
European Journal of Human Genetics : EJHG|June 15, 2007
Homozygosity for a FBN1 missense mutation: clinical and molecular evidence for recessive Marfan syndromeBert B A de Vries, Gerard Pals, Roelof Odink, et al.
Case Reports in Genetics|January 11, 2013
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL MutationRose H Mende, David P Drake, Raimos M Olomi, et al.
Singapore Medical Journal|April 3, 2013
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patientsFarmaditya E P Mundhofir, Erik A Sistermans, Sultana M H Faradz, et al.
Case Reports in Genetics|May 11, 2017
Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern TanzaniaElichilia R Shao, Lucas F Kiyegi, Amos O Mwasamwaja, et al.
Pediatric Neurology|April 17, 2004
Novel mutations in three patients with LGMD2C with phenotypic differencesSascha Vermeer, Aad Verrips, Michèl A A P Willemsen, et al.
American Journal of Medical Genetics|February 22, 2002
Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasiaErnie M H F Bongers, Hans van Bokhoven, Nine V A M Knoers, et al.
American Journal of Medical Genetics|October 3, 2002
FGFs, their receptors, and human limb malformations: clinical and molecular correlationsAndrew O M Wilkie, Susannah J Patey, Shih-Hsin Kan, et al.
American Journal of Medical Genetics. Part A|July 28, 2019
Ellis-van Creveld syndrome in a patient from TanzaniaMarieke C J Dekker, Adnan M Sadiq, Mubashir A Jusabani, et al.
Pageof 5