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Journal of Medical Genetics|November 16, 2006
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1Rosalie E Ferner, Susan M Huson, Nick Thomas, et al.
The British Journal of Dermatology|December 20, 2021
The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa databaseGabriela Petrof, Maria Papanikolaou, Anna E Martinez, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?Kenneth Maclean, Stephen A Holme, Elizabeth Gilmour, et al.
Human Molecular Genetics|January 9, 2022
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorderJi Hoon Han, Gavin Ryan, Alyson Guy, et al.
Acta Dermato-Venereologica|March 31, 2011
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosaNoor Almaani, Lu Liu, Patricia J C Dopping-Hepenstal, et al.
Plos Neglected Tropical Diseases|April 10, 2026
Diagnosis and therapeutic outcomes of biopsy-confirmed Pure Neuritic Leprosy: A two-decade experienceShrimantika Sarkar, Angel Miraclin T, Ranjani Jayachandran, et al.
The Journal of Clinical Endocrinology and Metabolism|March 23, 2016
Steroid Sulfatase Deficiency and Androgen Activation Before and After PubertyJan Idkowiak, Angela E Taylor, Sandra Subtil, et al.
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.
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