R M Winter|M E Pembrey - JoVE Visualize

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Journal of Medical Genetics|July 25, 1998

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotypeA K Ryan, K Bartlett, P Clayton, et al.

Human Genetics|June 21, 2001

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cMS Rickard, M Parker, W van't Hoff, et al.

Clinical Genetics|August 18, 1999

Further evidence from two families that craniofrontonasal dysplasia maps to Xp22L J Pulleyn, R M Winter, W Reardon, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 15, 1998

Neural basis of an inherited speech and language disorderF Vargha-Khadem, K E Watkins, C J Price, et al.

American Journal of Human Genetics|April 1, 1994

Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5qL van Herwerden, C S Rose, W Reardon, et al.

The British Journal of Ophthalmology|May 29, 1998

Optic disc anomalies and frontonasal dysplasiaP Hodgkins, M Lees, J Lawson, et al.

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.

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.

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Showing results (191-200 of 230) with videos related to

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Journal of Medical Genetics|July 25, 1998

Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotypeA K Ryan, K Bartlett, P Clayton, et al.

Human Genetics|June 21, 2001

Clinical Genetics|August 18, 1999

Further evidence from two families that craniofrontonasal dysplasia maps to Xp22L J Pulleyn, R M Winter, W Reardon, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 15, 1998

Neural basis of an inherited speech and language disorderF Vargha-Khadem, K E Watkins, C J Price, et al.

American Journal of Human Genetics|April 1, 1994

The British Journal of Ophthalmology|May 29, 1998

Optic disc anomalies and frontonasal dysplasiaP Hodgkins, M Lees, J Lawson, et al.

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.

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.

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