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Esther Gean

Showing results (1-10 of 9) with videos related to

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Human Mutation|December 24, 2002
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletionTiziana Bardaro, Geppino Falco, Angela Sparago, et al.
Revista De Neurologia|July 26, 2014
[Diploid/triploid mosaicism: a variable but characteristic phenotype]Daniel Natera-De Benito, Pilar Poo, Esther Gean, et al.
Developmental Medicine and Child Neurology|March 5, 2004
White matter alterations associated with chromosomal disordersAngels García-Cazorla, Anna Sans, Miguel Baquero, et al.
American Journal of Medical Genetics. Part A|November 16, 2010
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteriaVíctor Martínez-Glez, Valeria Romanelli, María A Mori, et al.
Pediatric Blood & Cancer|November 21, 2009
Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletionAna Roche, Jaume Mora, Maria Del Mar Perez, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest personMatthew R Fickie, Pablo Lapunzina, Jennifer K Gentile, et al.
Human Molecular Genetics|October 3, 2012
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary ciliaJose A Caparrós-Martín, María Valencia, Edel Reytor, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniquesValeria Romanelli, Heloisa N M Meneses, Luis Fernández, et al.
Clinical Genetics|February 12, 2020
Molecular characterization of Spanish patients with MECP2 duplication syndromeAinhoa Pascual-Alonso, Laura Blasco, Silvia Vidal, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Human Mutation|December 24, 2002
Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletionTiziana Bardaro, Geppino Falco, Angela Sparago, et al.
Revista De Neurologia|July 26, 2014
[Diploid/triploid mosaicism: a variable but characteristic phenotype]Daniel Natera-De Benito, Pilar Poo, Esther Gean, et al.
Developmental Medicine and Child Neurology|March 5, 2004
White matter alterations associated with chromosomal disordersAngels García-Cazorla, Anna Sans, Miguel Baquero, et al.
American Journal of Medical Genetics. Part A|November 16, 2010
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteriaVíctor Martínez-Glez, Valeria Romanelli, María A Mori, et al.
Pediatric Blood & Cancer|November 21, 2009
Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletionAna Roche, Jaume Mora, Maria Del Mar Perez, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest personMatthew R Fickie, Pablo Lapunzina, Jennifer K Gentile, et al.
Human Molecular Genetics|October 3, 2012
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary ciliaJose A Caparrós-Martín, María Valencia, Edel Reytor, et al.
European Journal of Human Genetics : EJHG|January 21, 2011
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniquesValeria Romanelli, Heloisa N M Meneses, Luis Fernández, et al.
Clinical Genetics|February 12, 2020
Molecular characterization of Spanish patients with MECP2 duplication syndromeAinhoa Pascual-Alonso, Laura Blasco, Silvia Vidal, et al.
Pageof 1