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Christine M Hall

Showing results (31-40 of 38) with videos related to

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American Journal of Medical Genetics. Part A|September 14, 2007
Clinical phenotype of lathosterolosisMassimiliano Rossi, Maria D'Armiento, Ida Parisi, 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.
Clinical Dysmorphology|September 8, 2006
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 geneGabrielle S Sellick, Kristein P Hoornaert, Geert R Mortier, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2Toshikatsu Mitsui, Ok-Hwa Kim, Christine M Hall, et al.
Pediatric Radiology|February 4, 2015
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesisMassimiliano Rossi, Christine M Hall, Raymonde Bouvier, et al.
BMC Medical Genomics|June 7, 2021
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics eraAtaf H Sabir, Elizabeth Morley, Jameela Sheikh, et al.
European Journal of Human Genetics : EJHG|November 30, 2006
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasiaAndreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, et al.
Human Mutation|September 17, 2011
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, et al.
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Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
American Journal of Medical Genetics. Part A|September 14, 2007
Clinical phenotype of lathosterolosisMassimiliano Rossi, Maria D'Armiento, Ida Parisi, 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.
Clinical Dysmorphology|September 8, 2006
A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 geneGabrielle S Sellick, Kristein P Hoornaert, Geert R Mortier, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2Toshikatsu Mitsui, Ok-Hwa Kim, Christine M Hall, et al.
Pediatric Radiology|February 4, 2015
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesisMassimiliano Rossi, Christine M Hall, Raymonde Bouvier, et al.
BMC Medical Genomics|June 7, 2021
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics eraAtaf H Sabir, Elizabeth Morley, Jameela Sheikh, et al.
European Journal of Human Genetics : EJHG|November 30, 2006
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasiaAndreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, et al.
Human Mutation|September 17, 2011
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionGail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, et al.
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