Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

R M Winter

Showing results (181-190 of 219) with videos related to

Pageof 22
Sort By:
European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|June 9, 2004
Familial syndromic duodenal atresia: Feingold syndromeM Holder-Espinasse, Z Ahmad, J Hamill, et al.
Lancet (London, England)|July 31, 2001
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromesX Zhou, H Hampel, H Thiele, et al.
Journal of Medical Genetics|September 1, 1996
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricansD Wilkes, P Rutland, L J Pulleyn, et al.
Archives of Disease in Childhood|March 1, 1984
Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophyM E Pembrey, K E Davies, R M Winter, et al.
Journal of Medical Genetics|October 1, 1991
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritanceA O Wilkie, M E Pembrey, R J Gibbons, et al.
American Journal of Medical Genetics|March 17, 2001
Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)B B de Vries, M Lees, S J Knight, et al.
Nature Genetics|November 14, 1997
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivationR M Plenge, B D Hendrich, C Schwartz, et al.
Clinical Dysmorphology|April 1, 1995
Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndromeI K Temple, D M Eccles, R M Winter, et al.
Lancet (London, England)|November 24, 1999
Subtle chromosomal rearrangements in children with unexplained mental retardationS J Knight, R Regan, A Nicod, et al.
The Journal of Pediatrics|October 1, 1988
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome)P L Robinson, M Shohat, R M Winter, et al.
Pageof 22

Showing results (181-190 of 219) with videos related to

Sort By:
Pageof 22
European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|June 9, 2004
Familial syndromic duodenal atresia: Feingold syndromeM Holder-Espinasse, Z Ahmad, J Hamill, et al.
Lancet (London, England)|July 31, 2001
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromesX Zhou, H Hampel, H Thiele, et al.
Journal of Medical Genetics|September 1, 1996
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricansD Wilkes, P Rutland, L J Pulleyn, et al.
Archives of Disease in Childhood|March 1, 1984
Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophyM E Pembrey, K E Davies, R M Winter, et al.
Journal of Medical Genetics|October 1, 1991
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritanceA O Wilkie, M E Pembrey, R J Gibbons, et al.
American Journal of Medical Genetics|March 17, 2001
Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13)B B de Vries, M Lees, S J Knight, et al.
Nature Genetics|November 14, 1997
A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivationR M Plenge, B D Hendrich, C Schwartz, et al.
Clinical Dysmorphology|April 1, 1995
Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndromeI K Temple, D M Eccles, R M Winter, et al.
Lancet (London, England)|November 24, 1999
Subtle chromosomal rearrangements in children with unexplained mental retardationS J Knight, R Regan, A Nicod, et al.
The Journal of Pediatrics|October 1, 1988
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome)P L Robinson, M Shohat, R M Winter, et al.
Pageof 22