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Stephen P Robertson

Showing results (71-80 of 146) with videos related to

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Neuromuscular Disorders : NMD|June 26, 2009
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossificationAsako Arai, Satomi Mitsuhashi, Yoshiaki Saito, et al.
European Journal of Human Genetics : EJHG|April 5, 2012
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritanceSahar Mansour, Marielle Swinkels, Paulien A Terhal, et al.
Human Genetics|June 13, 2009
Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphismsRobert J Hancox, Richie Poulton, David Welch, et al.
European Journal of Human Genetics : EJHG|September 4, 2020
Wilms tumor in patients with osteopathia striata with cranial sclerosisAlicia Bach, Jingyi Mi, Matthew Hunter, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS)David L Skidmore, David Chitayat, Tim Morgan, et al.
JIMD Reports|November 22, 2017
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q<sub>10</sub> Deficiency in a Female Sib-PairJessie C Jacobsen, Whitney Whitford, Brendan Swan, et al.
Journal of Clinical Periodontology|December 30, 2015
Telomere length and periodontal attachment loss: a prospective cohort studyWilliam Murray Thomson, Jiaxu Zeng, Jonathan M Broadbent, et al.
American Journal of Medical Genetics. Part A|August 14, 2008
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotypeMirjam H H van Roij, Shuji Mizumoto, Shuhei Yamada, et al.
Journal of Inherited Metabolic Disease|October 27, 2015
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorderJessie C Jacobsen, Callum Wilson, Vicki Cunningham, et al.
American Journal of Human Genetics|March 31, 2015
Mutations in DVL1 cause an osteosclerotic form of Robinow syndromeKieran J Bunn, Phil Daniel, Heleen S Rösken, et al.
Pageof 15

Showing results (71-80 of 146) with videos related to

Sort By:
Pageof 15
Neuromuscular Disorders : NMD|June 26, 2009
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossificationAsako Arai, Satomi Mitsuhashi, Yoshiaki Saito, et al.
European Journal of Human Genetics : EJHG|April 5, 2012
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritanceSahar Mansour, Marielle Swinkels, Paulien A Terhal, et al.
Human Genetics|June 13, 2009
Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphismsRobert J Hancox, Richie Poulton, David Welch, et al.
European Journal of Human Genetics : EJHG|September 4, 2020
Wilms tumor in patients with osteopathia striata with cranial sclerosisAlicia Bach, Jingyi Mi, Matthew Hunter, et al.
American Journal of Medical Genetics. Part A|July 9, 2011
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS)David L Skidmore, David Chitayat, Tim Morgan, et al.
JIMD Reports|November 22, 2017
Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q<sub>10</sub> Deficiency in a Female Sib-PairJessie C Jacobsen, Whitney Whitford, Brendan Swan, et al.
Journal of Clinical Periodontology|December 30, 2015
Telomere length and periodontal attachment loss: a prospective cohort studyWilliam Murray Thomson, Jiaxu Zeng, Jonathan M Broadbent, et al.
American Journal of Medical Genetics. Part A|August 14, 2008
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotypeMirjam H H van Roij, Shuji Mizumoto, Shuhei Yamada, et al.
Journal of Inherited Metabolic Disease|October 27, 2015
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorderJessie C Jacobsen, Callum Wilson, Vicki Cunningham, et al.
American Journal of Human Genetics|March 31, 2015
Mutations in DVL1 cause an osteosclerotic form of Robinow syndromeKieran J Bunn, Phil Daniel, Heleen S Rösken, et al.
Pageof 15