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M Splitt

Showing results (1-10 of 20) with videos related to

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Clinical Dysmorphology|January 11, 2001
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndromeK Becker, M Splitt
Lancet (London, England)|August 10, 1999
Left-isomerism sequence and maternal type-1 diabetesM Splitt, C Wright, D Sen, et al.
Verhandlungen Der Deutschen Gesellschaft Fur Pathologie|January 1, 1982
[Familial occurrence of cyclops over several generations]P Pfitzer, M Splitt, H Müntefering, et al.
Clinical and Experimental Dermatology|July 2, 2015
Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutationS Whitaker, S Leech, A Taylor, et al.
Clinical Genetics|July 11, 2017
Phenotypic spectrum associated with de novo mutations in QRICH1 geneA Ververi, M Splitt, J C S Dean, et al.
American Journal of Human Genetics|July 13, 2000
Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24J Goodship, H Gill, J Carter, et al.
American Journal of Medical Genetics. Part A|May 12, 2006
A constitutional telomeric translocation showing meiotic instabilityD J Josifova, R Mazzaschi, T Ballard, et al.
The British Journal of Dermatology|May 11, 2017
Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutationR J Martin, M Arefi, M Splitt, et al.
Journal of Medical Genetics|February 5, 2003
A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndromeJ M Wheway, S C Yau, V Nihalani, et al.
American Journal of Human Genetics|June 1, 1996
PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28S Lindsay, M Splitt, S Edney, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Clinical Dysmorphology|January 11, 2001
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndromeK Becker, M Splitt
Lancet (London, England)|August 10, 1999
Left-isomerism sequence and maternal type-1 diabetesM Splitt, C Wright, D Sen, et al.
Verhandlungen Der Deutschen Gesellschaft Fur Pathologie|January 1, 1982
[Familial occurrence of cyclops over several generations]P Pfitzer, M Splitt, H Müntefering, et al.
Clinical and Experimental Dermatology|July 2, 2015
Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutationS Whitaker, S Leech, A Taylor, et al.
Clinical Genetics|July 11, 2017
Phenotypic spectrum associated with de novo mutations in QRICH1 geneA Ververi, M Splitt, J C S Dean, et al.
American Journal of Human Genetics|July 13, 2000
Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24J Goodship, H Gill, J Carter, et al.
American Journal of Medical Genetics. Part A|May 12, 2006
A constitutional telomeric translocation showing meiotic instabilityD J Josifova, R Mazzaschi, T Ballard, et al.
The British Journal of Dermatology|May 11, 2017
Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutationR J Martin, M Arefi, M Splitt, et al.
Journal of Medical Genetics|February 5, 2003
A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndromeJ M Wheway, S C Yau, V Nihalani, et al.
American Journal of Human Genetics|June 1, 1996
PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28S Lindsay, M Splitt, S Edney, et al.
Pageof 2