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Moshe Frydman

Showing results (21-30 of 43) with videos related to

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European Journal of Human Genetics : EJHG|October 10, 2013
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencingZippora Brownstein, Amal Abu-Rayyan, Daphne Karfunkel-Doron, et al.
The Journal of Investigative Dermatology|April 1, 2006
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosisAbraham Zlotogorski, Dina Marek, Liran Horev, et al.
The Journal of Pediatrics|March 25, 2011
Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?Andreea Nissenkorn, Yonit Banet Levi, Daphna Vilozni, et al.
Human Genetics|August 22, 2002
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan JewsBruria Ben-Zeev, Etgar Levy-Nissenbaum, Hadas Lahat, et al.
American Journal of Human Genetics|June 4, 2011
Mutations in FYCO1 cause autosomal-recessive congenital cataractsJianjun Chen, Zhiwei Ma, Xiaodong Jiao, et al.
European Journal of Human Genetics : EJHG|August 9, 2012
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disordersSandesh C S Nagamani, Ayelet Erez, Bruria Ben-Zeev, et al.
The International Journal of Neuropsychopharmacology|June 1, 2006
Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndromeDoron Gothelf, Elena Michaelovsky, Amos Frisch, et al.
Pediatric Research|March 19, 2004
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosaZippora Brownstein, Tamar Ben-Yosef, Orit Dagan, et al.
Prenatal Diagnosis|February 28, 2012
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathyHagith Yonath, Haike Reznik-Wolf, Michal Berkenstadt, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 30, 2004
Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndromeDoron Gothelf, Gadi Presburger, Ada H Zohar, et al.
Pageof 5

Showing results (21-30 of 43) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|October 10, 2013
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencingZippora Brownstein, Amal Abu-Rayyan, Daphne Karfunkel-Doron, et al.
The Journal of Investigative Dermatology|April 1, 2006
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosisAbraham Zlotogorski, Dina Marek, Liran Horev, et al.
The Journal of Pediatrics|March 25, 2011
Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?Andreea Nissenkorn, Yonit Banet Levi, Daphna Vilozni, et al.
Human Genetics|August 22, 2002
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan JewsBruria Ben-Zeev, Etgar Levy-Nissenbaum, Hadas Lahat, et al.
American Journal of Human Genetics|June 4, 2011
Mutations in FYCO1 cause autosomal-recessive congenital cataractsJianjun Chen, Zhiwei Ma, Xiaodong Jiao, et al.
European Journal of Human Genetics : EJHG|August 9, 2012
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disordersSandesh C S Nagamani, Ayelet Erez, Bruria Ben-Zeev, et al.
The International Journal of Neuropsychopharmacology|June 1, 2006
Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndromeDoron Gothelf, Elena Michaelovsky, Amos Frisch, et al.
Pediatric Research|March 19, 2004
The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosaZippora Brownstein, Tamar Ben-Yosef, Orit Dagan, et al.
Prenatal Diagnosis|February 28, 2012
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathyHagith Yonath, Haike Reznik-Wolf, Michal Berkenstadt, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 30, 2004
Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndromeDoron Gothelf, Gadi Presburger, Ada H Zohar, et al.
Pageof 5