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Human mutation

Showing results (1591-1600 of 5,734) with videos related to

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Human Mutation|February 17, 2005
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variationJustin Graf, Richard Hodgson, Angela van Daal
Human Mutation|February 20, 2004
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapyL Karageorgos, P Harmatz, J Simon, et al.
Human Mutation|February 20, 2004
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndromeFranco Laccone, Ivonne Jünemann, Sharon Whatley, et al.
Human Mutation|July 9, 2004
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolismJeannette Gootjes, Frank Schmohl, Petra A W Mooijer, et al.
Human Mutation|July 9, 2004
Bayesian approach to discovering pathogenic SNPs in conserved protein domainsZhaohui Cai, Eric F Tsung, Voichita D Marinescu, et al.
Human Mutation|May 18, 2004
The androgen receptor gene mutations database (ARDB): 2004 updateBruce Gottlieb, Lenore K Beitel, Jian Hui Wu, et al.
Human Mutation|May 18, 2004
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuriaMarek Orendáè, Ewa Pronicka, Jolanta Kubalska, et al.
Human Mutation|May 18, 2004
BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertensionHiroko Morisaki, Norifumi Nakanishi, Shingo Kyotani, et al.
Human Mutation|December 26, 2003
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, et al.
Human Mutation|December 26, 2003
Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and locationJodi K Maranchie, Anoushka Afonso, Paul S Albert, et al.
Pageof 574

Showing results (1591-1600 of 5,734) with videos related to

Sort By:
Pageof 574
Human Mutation|February 17, 2005
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variationJustin Graf, Richard Hodgson, Angela van Daal
Human Mutation|February 20, 2004
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapyL Karageorgos, P Harmatz, J Simon, et al.
Human Mutation|February 20, 2004
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndromeFranco Laccone, Ivonne Jünemann, Sharon Whatley, et al.
Human Mutation|July 9, 2004
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolismJeannette Gootjes, Frank Schmohl, Petra A W Mooijer, et al.
Human Mutation|July 9, 2004
Bayesian approach to discovering pathogenic SNPs in conserved protein domainsZhaohui Cai, Eric F Tsung, Voichita D Marinescu, et al.
Human Mutation|May 18, 2004
The androgen receptor gene mutations database (ARDB): 2004 updateBruce Gottlieb, Lenore K Beitel, Jian Hui Wu, et al.
Human Mutation|May 18, 2004
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuriaMarek Orendáè, Ewa Pronicka, Jolanta Kubalska, et al.
Human Mutation|May 18, 2004
BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertensionHiroko Morisaki, Norifumi Nakanishi, Shingo Kyotani, et al.
Human Mutation|December 26, 2003
Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, et al.
Human Mutation|December 26, 2003
Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and locationJodi K Maranchie, Anoushka Afonso, Paul S Albert, et al.
Pageof 574