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Anu Bashamboo

Showing results (51-60 of 94) with videos related to

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Plos One|July 5, 2012
Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutationsCaroline Galeotti, Zineb Lahlou, Domitille Goullon, et al.
Nucleic Acids Research|September 20, 2015
Molecular basis of the attenuated phenotype of human APOBEC3B DNA mutator enzymeVincent Caval, Mohamed S Bouzidi, Rodolphe Suspène, et al.
Journal of Genetics|December 23, 2015
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndromeDora Steel, Vincenzo Salpietro, Rahul Phadke, et al.
Scientific Reports|August 1, 2024
Evidence for NR2F2/COUP-TFII involvement in human testis developmentSomboon Wankanit, Housna Zidoune, Joëlle Bignon-Topalovic, et al.
Fertility and Sterility|March 27, 2016
Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrheaImen Ben Hadj Hmida, Soumaya Mougou-Zerelli, Anis Hadded, et al.
Human Mutation|May 7, 2019
The TALE homeodomain of PBX1 is involved in human primary testis-determinationCaroline Eozenou, Anu Bashamboo, Joelle Bignon-Topalovic, et al.
Annals of Dermatology|April 11, 2017
Identification of a Novel Mutation of <i>LAMB3</i> Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome SequencingNadia Laroussi, Olfa Messaoud, Mariem Chargui, et al.
Molecular Genetics & Genomic Medicine|May 25, 2019
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndromeAbir Ben Haj Ali, Ahlem Amouri, Marwa Sayeb, et al.
Frontiers in Genetics|September 20, 2021
Oligogenic Inheritance Underlying Incomplete Penetrance of <i>PROKR2</i> Mutations in Hypogonadotropic HypogonadismRahma Mkaouar, Lamia Cherif Ben Abdallah, Chokri Naouali, et al.
Endocrine Connections|May 19, 2021
The evolving role of whole-exome sequencing in the management of disorders of sex developmentYardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, et al.
Pageof 10

Showing results (51-60 of 94) with videos related to

Sort By:
Pageof 10
Plos One|July 5, 2012
Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutationsCaroline Galeotti, Zineb Lahlou, Domitille Goullon, et al.
Nucleic Acids Research|September 20, 2015
Molecular basis of the attenuated phenotype of human APOBEC3B DNA mutator enzymeVincent Caval, Mohamed S Bouzidi, Rodolphe Suspène, et al.
Journal of Genetics|December 23, 2015
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndromeDora Steel, Vincenzo Salpietro, Rahul Phadke, et al.
Scientific Reports|August 1, 2024
Evidence for NR2F2/COUP-TFII involvement in human testis developmentSomboon Wankanit, Housna Zidoune, Joëlle Bignon-Topalovic, et al.
Fertility and Sterility|March 27, 2016
Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrheaImen Ben Hadj Hmida, Soumaya Mougou-Zerelli, Anis Hadded, et al.
Human Mutation|May 7, 2019
The TALE homeodomain of PBX1 is involved in human primary testis-determinationCaroline Eozenou, Anu Bashamboo, Joelle Bignon-Topalovic, et al.
Annals of Dermatology|April 11, 2017
Identification of a Novel Mutation of <i>LAMB3</i> Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome SequencingNadia Laroussi, Olfa Messaoud, Mariem Chargui, et al.
Molecular Genetics & Genomic Medicine|May 25, 2019
Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndromeAbir Ben Haj Ali, Ahlem Amouri, Marwa Sayeb, et al.
Frontiers in Genetics|September 20, 2021
Oligogenic Inheritance Underlying Incomplete Penetrance of <i>PROKR2</i> Mutations in Hypogonadotropic HypogonadismRahma Mkaouar, Lamia Cherif Ben Abdallah, Chokri Naouali, et al.
Endocrine Connections|May 19, 2021
The evolving role of whole-exome sequencing in the management of disorders of sex developmentYardena Tenenbaum-Rakover, Osnat Admoni, Ghadir Elias-Assad, et al.
Pageof 10