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L Basel-Vanagaite

Showing results (11-20 of 22) with videos related to

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Clinical Genetics|May 1, 2008
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotypeL Avrahami, S Maas, M Pasmanik-Chor, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|January 31, 2017
Cut-off value of nuchal translucency as indication for chromosomal microarray analysisI Maya, S Yacobson, S Kahana, et al.
American Journal of Human Genetics|July 10, 2001
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in IsraelH Toledano-Alhadef, L Basel-Vanagaite, N Magal, et al.
Endocrine Connections|June 27, 2017
A novel heterozygous IGF-1 receptor mutation associated with hypoglycemiaR Solomon-Zemler, L Basel-Vanagaite, D Steier, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|April 12, 2016
Chromosomal microarray analysis in fetuses with aberrant right subclavian arteryI Maya, S Kahana, J Yeshaya, et al.
Clinical Genetics|June 24, 2011
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in IsraelG Borck, L Rainshtein, S Hellman-Aharony, et al.
Neurology|August 22, 2008
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre typeL Van Maldergem, M Yuksel-Apak, H Kayserili, et al.
Neurology|January 12, 2005
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizuresR Straussberg, L Basel-Vanagaite, S Kivity, et al.
Journal of Medical Genetics|July 22, 2005
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardationL Basel-Vanagaite, R Attia, M Yahav, et al.
Journal of Medical Genetics|February 24, 2011
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotypeM Balasubramanian, K Smith, L Basel-Vanagaite, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Clinical Genetics|May 1, 2008
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotypeL Avrahami, S Maas, M Pasmanik-Chor, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|January 31, 2017
Cut-off value of nuchal translucency as indication for chromosomal microarray analysisI Maya, S Yacobson, S Kahana, et al.
American Journal of Human Genetics|July 10, 2001
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in IsraelH Toledano-Alhadef, L Basel-Vanagaite, N Magal, et al.
Endocrine Connections|June 27, 2017
A novel heterozygous IGF-1 receptor mutation associated with hypoglycemiaR Solomon-Zemler, L Basel-Vanagaite, D Steier, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|April 12, 2016
Chromosomal microarray analysis in fetuses with aberrant right subclavian arteryI Maya, S Kahana, J Yeshaya, et al.
Clinical Genetics|June 24, 2011
High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in IsraelG Borck, L Rainshtein, S Hellman-Aharony, et al.
Neurology|August 22, 2008
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre typeL Van Maldergem, M Yuksel-Apak, H Kayserili, et al.
Neurology|January 12, 2005
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizuresR Straussberg, L Basel-Vanagaite, S Kivity, et al.
Journal of Medical Genetics|July 22, 2005
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardationL Basel-Vanagaite, R Attia, M Yahav, et al.
Journal of Medical Genetics|February 24, 2011
Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotypeM Balasubramanian, K Smith, L Basel-Vanagaite, et al.
Pageof 3