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Y J Crow

Showing results (11-20 of 40) with videos related to

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Acta Paediatrica (Oslo, Norway : 1992)|September 25, 2009
Aicardi-Goutières syndrome presenting with haematemesis in infancyD Hall, G I Rice, N Akbar, et al.
Neuropediatrics|June 1, 1997
Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic depositsY J Crow, J L Tolmie, A G Howatson, et al.
Neuropediatrics|May 8, 2008
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 geneA-M Childs, T Hutchin, K Pysden, et al.
Neurology|November 15, 2006
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS geneP A James, M Z Cader, F Muntoni, et al.
Molecular Syndromology|March 5, 2011
Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and CystsT A Briggs, M Hubbard, C Hawkins, et al.
Journal of Medical Genetics|April 16, 1998
A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardationS R Ghaffari, E Boyd, J L Tolmie, et al.
Journal of Medical Genetics|March 21, 1998
"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndromeY J Crow, S M Zuberi, R McWilliam, et al.
Annales De Dermatologie Et De Venereologie|September 16, 2018
[Familial chilblain lupus: Four cases spanning three generations]A-S Beltoise, C Audouin-Pajot, P Lucas, et al.
Pediatric Rheumatology Online Journal|May 14, 2020
Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotypeS L N Clarke, L Robertson, G I Rice, et al.
American Journal of Human Genetics|November 15, 2000
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31L Pattison, Y J Crow, V J Deeble, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
Acta Paediatrica (Oslo, Norway : 1992)|September 25, 2009
Aicardi-Goutières syndrome presenting with haematemesis in infancyD Hall, G I Rice, N Akbar, et al.
Neuropediatrics|June 1, 1997
Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic depositsY J Crow, J L Tolmie, A G Howatson, et al.
Neuropediatrics|May 8, 2008
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 geneA-M Childs, T Hutchin, K Pysden, et al.
Neurology|November 15, 2006
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS geneP A James, M Z Cader, F Muntoni, et al.
Molecular Syndromology|March 5, 2011
Treatment of Gastrointestinal Bleeding in a Probable Case of Cerebroretinal Microangiopathy with Calcifications and CystsT A Briggs, M Hubbard, C Hawkins, et al.
Journal of Medical Genetics|April 16, 1998
A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardationS R Ghaffari, E Boyd, J L Tolmie, et al.
Journal of Medical Genetics|March 21, 1998
"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndromeY J Crow, S M Zuberi, R McWilliam, et al.
Annales De Dermatologie Et De Venereologie|September 16, 2018
[Familial chilblain lupus: Four cases spanning three generations]A-S Beltoise, C Audouin-Pajot, P Lucas, et al.
Pediatric Rheumatology Online Journal|May 14, 2020
Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotypeS L N Clarke, L Robertson, G I Rice, et al.
American Journal of Human Genetics|November 15, 2000
A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31L Pattison, Y J Crow, V J Deeble, et al.
Pageof 4