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Louise C Wilson

Showing results (1-10 of 59) with videos related to

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Journal of Pediatric Endocrinology & Metabolism : JPEM|June 23, 2006
Albright's hereditary osteodystrophyLouise C Wilson
Seminars in Musculoskeletal Radiology|January 24, 2003
Albright's hereditary osteodystrophy and pseudohypoparathyroidismLouise C Wilson, Christine M Hall
American Journal of Human Genetics|March 8, 2003
Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNASarah J Rickard, Louise C Wilson
American Journal of Medical Genetics. Part A|August 15, 2006
Patched mutations and hairy skin patches: a new sign in Gorlin syndromeLouise C Wilson, Ekundayo Ajayi-Obe, Birgitta Bernhard, et al.
Pediatric Radiology|November 2, 2020
Major skull manifestations of skeletal dysplasias - pictorial essayAlistair D Calder, Trevor Gaunt, Melissa Hickson, et al.
American Journal of Medical Genetics. Part A|May 16, 2019
Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second reportHelen K Brittain, Johanna Feary, Mark Rosenthal, et al.
European Journal of Human Genetics : EJHG|July 21, 2021
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiencyEleanor Hay, Louise C Wilson, Bethan Hoskins, et al.
American Journal of Medical Genetics. Part A|September 4, 2015
Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the conditionTazeen Ashraf, Morag N Collinson, Joanna Fairhurst, et al.
European Journal of Medical Genetics|August 9, 2007
Immunological abnormalities in CHARGE syndromeKarin Writzl, Catherine M Cale, Christine M Pierce, et al.
Clinical Dysmorphology|January 3, 2020
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemiaEdward Steel, Jane A Hurst, Thomas Cullup, et al.
Pageof 6

Showing results (1-10 of 59) with videos related to

Sort By:
Pageof 6
Journal of Pediatric Endocrinology & Metabolism : JPEM|June 23, 2006
Albright's hereditary osteodystrophyLouise C Wilson
Seminars in Musculoskeletal Radiology|January 24, 2003
Albright's hereditary osteodystrophy and pseudohypoparathyroidismLouise C Wilson, Christine M Hall
American Journal of Human Genetics|March 8, 2003
Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNASarah J Rickard, Louise C Wilson
American Journal of Medical Genetics. Part A|August 15, 2006
Patched mutations and hairy skin patches: a new sign in Gorlin syndromeLouise C Wilson, Ekundayo Ajayi-Obe, Birgitta Bernhard, et al.
Pediatric Radiology|November 2, 2020
Major skull manifestations of skeletal dysplasias - pictorial essayAlistair D Calder, Trevor Gaunt, Melissa Hickson, et al.
American Journal of Medical Genetics. Part A|May 16, 2019
Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second reportHelen K Brittain, Johanna Feary, Mark Rosenthal, et al.
European Journal of Human Genetics : EJHG|July 21, 2021
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiencyEleanor Hay, Louise C Wilson, Bethan Hoskins, et al.
American Journal of Medical Genetics. Part A|September 4, 2015
Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the conditionTazeen Ashraf, Morag N Collinson, Joanna Fairhurst, et al.
European Journal of Medical Genetics|August 9, 2007
Immunological abnormalities in CHARGE syndromeKarin Writzl, Catherine M Cale, Christine M Pierce, et al.
Clinical Dysmorphology|January 3, 2020
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemiaEdward Steel, Jane A Hurst, Thomas Cullup, et al.
Pageof 6