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Celia Moss

Showing results (51-60 of 70) with videos related to

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Human Mutation|February 14, 2006
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosisJan Hellemans, Philippe Debeer, Michael Wright, et al.
The Journal of Investigative Dermatology|June 29, 2005
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical featuresMitsuo Fujimoto, Suzanne N Leech, Therina Theron, et al.
Neuromuscular Disorders : NMD|May 23, 2013
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotypeRos Quinlivan, Satomi Mitsuahashi, Caroline Sewry, et al.
The British Journal of Dermatology|January 23, 2023
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defectsAdam Jackson, Celia Moss, Kate E Chandler, et al.
Nature Genetics|October 17, 2006
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychiaDiana C Blaydon, Yoshiyuki Ishii, Edel A O'Toole, et al.
The Journal of Investigative Dermatology|February 14, 2004
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndromeGabrielle H S Ashton, W H Irwin McLean, Andrew P South, et al.
HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
Pharmacology & Therapeutics|May 30, 2018
Therapeutic targeting of cathepsin C: from pathophysiology to treatmentBrice Korkmaz, George H Caughey, Iain Chapple, et al.
Archives of Dermatology|February 23, 2011
Harlequin ichthyosis: a review of clinical and molecular findings in 45 casesShefali Rajpopat, Celia Moss, Jemima Mellerio, et al.
The Journal of Investigative Dermatology|September 21, 2012
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseasesClaire A Scott, Vincent Plagnol, Daniela Nitoiu, et al.
Pageof 7

Showing results (51-60 of 70) with videos related to

Sort By:
Pageof 7
Human Mutation|February 14, 2006
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosisJan Hellemans, Philippe Debeer, Michael Wright, et al.
The Journal of Investigative Dermatology|June 29, 2005
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical featuresMitsuo Fujimoto, Suzanne N Leech, Therina Theron, et al.
Neuromuscular Disorders : NMD|May 23, 2013
Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotypeRos Quinlivan, Satomi Mitsuahashi, Caroline Sewry, et al.
The British Journal of Dermatology|January 23, 2023
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defectsAdam Jackson, Celia Moss, Kate E Chandler, et al.
Nature Genetics|October 17, 2006
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychiaDiana C Blaydon, Yoshiyuki Ishii, Edel A O'Toole, et al.
The Journal of Investigative Dermatology|February 14, 2004
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndromeGabrielle H S Ashton, W H Irwin McLean, Andrew P South, et al.
HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
Pharmacology & Therapeutics|May 30, 2018
Therapeutic targeting of cathepsin C: from pathophysiology to treatmentBrice Korkmaz, George H Caughey, Iain Chapple, et al.
Archives of Dermatology|February 23, 2011
Harlequin ichthyosis: a review of clinical and molecular findings in 45 casesShefali Rajpopat, Celia Moss, Jemima Mellerio, et al.
The Journal of Investigative Dermatology|September 21, 2012
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseasesClaire A Scott, Vincent Plagnol, Daniela Nitoiu, et al.
Pageof 7