Found: 66
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Congenital cutaneous lymphadenoma.
- Published in:
- Journal of Cutaneous Pathology, 2017, v. 44, n. 11, p. 954, doi. 10.1111/cup.13016
- By:
- Publication type:
- Article
Pyogenic Skin Infections as a Presentation of Papillon-Lefèvre Syndrome: Phenotypic Variability or Under-Reporting?
- Published in:
- Periodontal Practice Today, 2005, v. 2, n. 3, p. 191
- By:
- Publication type:
- Article
Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome?
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3074, doi. 10.1002/ajmg.a.61887
- By:
- Publication type:
- Article
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
- Published in:
- Nature Genetics, 2006, v. 38, n. 11, p. 1245, doi. 10.1038/ng1883
- By:
- Publication type:
- Article
Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Skin and kin.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Skin and kin.
- Published in:
- Journal of the Royal Society of Medicine, 2005, v. 98, n. 5, p. 200, doi. 10.1177/014107680509800507
- By:
- Publication type:
- Article
An Atlas of Diseases of the Nail.
- Published in:
- 2004
- By:
- Publication type:
- Book Review
The Desktop Guide to Complementary and Alternative Medicine: an Evidence-based Approach.
- Published in:
- 2001
- By:
- Publication type:
- Book Review
Multiple cerebral abscesses in Papillon-Lefèvre syndrome.
- Published in:
- Child's Nervous System, 2013, v. 29, n. 8, p. 1227, doi. 10.1007/s00381-013-2152-2
- By:
- Publication type:
- Article
Skin lesions simulating child abuse.
- Published in:
- Indian Journal of Paediatric Dermatology, 2018, v. 19, n. 3, p. 187, doi. 10.4103/ijpd.IJPD_56_18
- By:
- Publication type:
- Article
Degos disease: a new simulator of non-accidental injury.
- Published in:
- Developmental Medicine & Child Neurology, 2009, v. 51, n. 8, p. 647, doi. 10.1111/j.1469-8749.2009.03349.x
- By:
- Publication type:
- Article
Mental Illness in Sterling County.
- Published in:
- 1962
- By:
- Publication type:
- Book Review
Compound allergy to a skin marker for patch testing: a chromatographic analysis.
- Published in:
- Contact Dermatitis (01051873), 1989, v. 21, n. 1, p. 12, doi. 10.1111/j.1600-0536.1989.tb04678.x
- By:
- Publication type:
- Article
Allergy to non-toxoid constituents of vaccines and implications for patch testing.
- Published in:
- Contact Dermatitis (01051873), 1988, v. 18, n. 3, p. 143, doi. 10.1111/j.1600-0536.1988.tb04500.x
- By:
- Publication type:
- Article
Caring for babies born with epidermolysis bullosa.
- Published in:
- British Journal of Dermatology, 2024, v. 190, n. 5, p. 608, doi. 10.1093/bjd/ljae048
- By:
- Publication type:
- Article
P14 Midface Toddler Excoriation Syndrome (MiTES): a new mimic of non-accidental injury.
- Published in:
- British Journal of Dermatology, 2024, v. 190, p. i9, doi. 10.1093/bjd/ljad483.023
- By:
- Publication type:
- Article
O07 CHILD syndrome and ILVEN: disorders on the same spectrum?
- Published in:
- British Journal of Dermatology, 2024, v. 190, p. i3, doi. 10.1093/bjd/ljad483.007
- By:
- Publication type:
- Article
Potency of topical steroids should be clearly labelled on all packaging.
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 3, p. 427, doi. 10.1093/bjd/ljac104
- By:
- Publication type:
- Article
Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 1, p. 75, doi. 10.1093/bjd/ljac026
- By:
- Publication type:
- Article
Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study.
- Published in:
- British Journal of Dermatology, 2023, v. 188, n. 1, p. 139, doi. 10.1093/bjd/ljac015
- By:
- Publication type:
- Article
Topical steroid withdrawal syndrome: time to bridge the gap.
- Published in:
- British Journal of Dermatology, 2022, v. 187, n. 5, p. 780, doi. 10.1111/bjd.21770
- By:
- Publication type:
- Article
The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database*.
- Published in:
- British Journal of Dermatology, 2022, v. 186, n. 5, p. 843, doi. 10.1111/bjd.20958
- By:
- Publication type:
- Article
Quantitative relationships between sensitizing dose of DNCB and reactivity in normal subjects.
- Published in:
- Clinical & Experimental Immunology, 1983, v. 53, n. 3, p. 709
- By:
- Publication type:
- Article
RARE DERMATOLOGY SERVICES.
- Published in:
- Dermatological Nursing, 2012, v. 11, n. 2, p. 54
- By:
- Publication type:
- Article
Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa.
- Published in:
- Acta Dermato-Venereologica, 2011, v. 91, n. 3, p. 262, doi. 10.2340/00015555-1053
- By:
- Publication type:
- Article
Hereditary Vitamin D-Resistant Rickets Presenting as Alopecia.
- Published in:
- Pediatric Dermatology, 2014, v. 31, n. 4, p. 519, doi. 10.1111/pde.12327
- By:
- Publication type:
- Article
Dilated Cardiomyopathy In Epidermolysis Bullosa: A Retrospective, Multicenter Study-Response.
- Published in:
- Pediatric Dermatology, 2010, v. 27, n. 6, p. 679, doi. 10.1111/j.1525-1470.2010.01339.x
- By:
- Publication type:
- Article
Diarrhea Associated with Propranolol Treatment for Hemangioma of Infancy (HOI).
- Published in:
- Pediatric Dermatology, 2010, v. 27, n. 5, p. 558, doi. 10.1111/j.1525-1470.2010.01221.x
- By:
- Publication type:
- Article
Links Between Granuloma Annulare, Necrobiosis Lipoidica Diabeticorum and Childhood Diabetes: A Matter of Time?
- Published in:
- Pediatric Dermatology, 2010, v. 27, n. 2, p. 178, doi. 10.1111/j.1525-1470.2010.01099.x
- By:
- Publication type:
- Article
"NEW" SYNDROME WITH TELANGIECTASIA, DWARFISM, AND SPONDYLOEPIPHYSEAL DYSPLASIA MAY BE ROTHMUND-THOMSON SYNDROME.
- Published in:
- 1990
- By:
- Publication type:
- Letter
Targeted Sequence Capture and High-Throughput Sequencing in the Molecular Diagnosis of Ichthyosis and Other Skin Diseases.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 2, p. 573, doi. 10.1038/jid.2012.332
- By:
- Publication type:
- Article
Revertant Mosaicism in Kindler Syndrome.
- Published in:
- 2012
- By:
- Publication type:
- Letter
A New Way to Classify Genetic Skin Disease.
- Published in:
- Journal of Investigative Dermatology, 2009, v. 129, n. 11, p. 2543, doi. 10.1038/jid.2009.292
- By:
- Publication type:
- Article
Gonosomal Mosaicism for a Nonsense Mutation (R1947X) in the NF1 Gene in Segmental Neurofibromatosis Type 1.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 125, n. 3, p. 463, doi. 10.1111/j.0022-202X.2005.23834.x
- By:
- Publication type:
- Article
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 125, n. 1, p. 86, doi. 10.1111/j.0022-202X.2005.23745.x
- By:
- Publication type:
- Article
A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis.
- Published in:
- 2004
- By:
- Publication type:
- Letter
Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2004, v. 122, n. 1, p. 78, doi. 10.1046/j.0022-202X.2003.22136.x
- By:
- Publication type:
- Article
Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex.
- Published in:
- 1997
- By:
- Publication type:
- Report
End-stage renal failure in adolescence with Sjögren’s syndrome autoantibodies SSA and SSB.
- Published in:
- 2007
- By:
- Publication type:
- Report
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 12, p. 1970, doi. 10.1093/hmg/ddab368
- By:
- Publication type:
- Article
A Recurrent Homozygous Nonsense Mutation within the LAMA3 Gene as a Cause of Herlitz Junctional Epidermolysis Bullosa in Patients of Pakistani Ancestry: Evidence for a Founder Effect.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 106, n. 4, p. 781, doi. 10.1111/1523-1747.ep12346349
- By:
- Publication type:
- Article
Use of a novel laparoscopic gastrostomy technique in children with severe epidermolysis bullosa.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Genetic Disorders of the Skin (Book).
- Published in:
- 1992
- By:
- Publication type:
- Book Review
Precocious puberty in a boy with a widespread linear epidermal naevus.
- Published in:
- British Journal of Dermatology, 1991, v. 125, n. 2, p. 178, doi. 10.1111/j.1365-2133.1991.tb06068.x
- By:
- Publication type:
- Article
Dermatology and the human gene map.
- Published in:
- British Journal of Dermatology, 1991, v. 124, n. 1, p. 3, doi. 10.1111/j.1365-2133.1991.tb03274.x
- By:
- Publication type:
- Article
Rothmund-Thomson syndrome: a report of two patients and a review of the literature.
- Published in:
- British Journal of Dermatology, 1990, v. 122, n. 6, p. 821, doi. 10.1111/j.1365-2133.1990.tb06272.x
- By:
- Publication type:
- Article
Genetic control of sebum excretion and acne -- a twin study.
- Published in:
- 1989
- By:
- Publication type:
- Letter
A sweating abnormality in incontinentia pigmenti.
- Published in:
- British Journal of Dermatology, 1987, v. 117, p. 29, doi. 10.1111/j.1365-2133.1987.tb12018.x
- By:
- Publication type:
- Article
Anhidrotic and achromians lesions in incontinentia pigmenti.
- Published in:
- British Journal of Dermatology, 1987, v. 116, n. 6, p. 839, doi. 10.1111/j.1365-2133.1987.tb04903.x
- By:
- Publication type:
- Article