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American Journal of Human Genetics
|
August 3, 2010
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
Sarah B Pierce, Tom Walsh, Karen M Chisholm, et al.
Fetal and Pediatric Pathology
|
December 13, 2006
Mortality and pathological findings in C (Opitz trigonocephaly) syndrome
John M Opitz, Angelica R Putnam, Jessica M Comstock, et al.
American Journal of Medical Genetics. Part A
|
October 30, 2016
Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysis
Erik D Christensen, Justin Berger, Mouied M Alashari, et al.
Scientific Reports
|
October 15, 2017
Pharmacological HIF-inhibition attenuates postoperative adhesion formation
Moritz J Strowitzki, Alina S Ritter, Praveen Radhakrishnan, et al.
American Journal of Medical Genetics. Part A
|
January 16, 2016
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes
Roser Urreizti, Neus Roca-Ayats, Judith Trepat, et al.
American Journal of Medical Genetics. Part A
|
October 7, 2005
XK-aprosencephaly and related entities
G Renzetti, A Villani, C Bizzarri, et al.
Clinical Genetics
|
January 1, 1972
Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies
J S O'Brien, M W Ho, M L Veath, et al.
American Journal of Medical Genetics. Part A
|
November 22, 2013
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload
Kathryn J Swoboda, Rebecca L Margraf, John C Carey, et al.
American Journal of Medical Genetics
|
July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and review
E M Bongers, J M Opitz, A Fryer, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2008
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene
John M Graham, Jeannie Visootsak, Elisabeth Dykens, et al.
Page
of 52
Search research articles
Search
Showing results (491-500 of 520) with videos related to
Sort By:
Page
of 52
American Journal of Human Genetics
|
August 3, 2010
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
Sarah B Pierce, Tom Walsh, Karen M Chisholm, et al.
Fetal and Pediatric Pathology
|
December 13, 2006
Mortality and pathological findings in C (Opitz trigonocephaly) syndrome
John M Opitz, Angelica R Putnam, Jessica M Comstock, et al.
American Journal of Medical Genetics. Part A
|
October 30, 2016
Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysis
Erik D Christensen, Justin Berger, Mouied M Alashari, et al.
Scientific Reports
|
October 15, 2017
Pharmacological HIF-inhibition attenuates postoperative adhesion formation
Moritz J Strowitzki, Alina S Ritter, Praveen Radhakrishnan, et al.
American Journal of Medical Genetics. Part A
|
January 16, 2016
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes
Roser Urreizti, Neus Roca-Ayats, Judith Trepat, et al.
American Journal of Medical Genetics. Part A
|
October 7, 2005
XK-aprosencephaly and related entities
G Renzetti, A Villani, C Bizzarri, et al.
Clinical Genetics
|
January 1, 1972
Juvenile GM 1 gangliosidosis: clinical, pathological, chemical and enzymatic studies
J S O'Brien, M W Ho, M L Veath, et al.
American Journal of Medical Genetics. Part A
|
November 22, 2013
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload
Kathryn J Swoboda, Rebecca L Margraf, John C Carey, et al.
American Journal of Medical Genetics
|
July 31, 2001
Meier-Gorlin syndrome: report of eight additional cases and review
E M Bongers, J M Opitz, A Fryer, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2008
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene
John M Graham, Jeannie Visootsak, Elisabeth Dykens, et al.
Page
of 52