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Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2015, v. 81, n. 3, p. 303, doi. 10.4103/0378-6323.152744
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- Publication type:
- Article
The Alopecia Areata Severity and Morbidity Index (ASAMI) Study: Results From a Global Expert Consensus Exercise on Determinants of Alopecia Areata Severity.
- Published in:
- JAMA Dermatology, 2024, v. 160, n. 3, p. 341, doi. 10.1001/jamadermatol.2023.5869
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- Publication type:
- Article
A Global eDelphi Exercise to Identify Core Domains and Domain Items for the Development of a Global Registry of Alopecia Areata Disease Severity and Treatment Safety (GRASS).
- Published in:
- 2021
- By:
- Publication type:
- journal article
Insights Into the Biology of Persistent Chemotherapy-Induced Alopecia via Genomic Approaches-An Avenue to Clinical Translation?
- Published in:
- 2020
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- Publication type:
- Editorial
Odd-looking hair and progressive alopecia in mother and son.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Odd-Looking Hair and Progressive Alopecia in Mother and Son.
- Published in:
- JAMA Dermatology, 2014, v. 150, n. 5, p. 567, doi. 10.1001/jamadermatol.2013.8078
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- Publication type:
- Article
MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor?
- Published in:
- 2006
- By:
- Publication type:
- journal article
TP63-related disorders: two case reports and a brief review of the literature.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3900, doi. 10.1002/ajmg.a.62438
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- Publication type:
- Article
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2555, doi. 10.1002/ajmg.a.37233
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- Publication type:
- Article
Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
- Published in:
- 2009
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- Publication type:
- Correction Notice
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
- Published in:
- Nature Genetics, 2009, v. 41, n. 2, p. 228, doi. 10.1038/ng.276
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- Publication type:
- Article
G protein–coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 329, doi. 10.1038/ng.84
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- Publication type:
- Article
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.
- Published in:
- Nature Genetics, 2003, v. 34, n. 2, p. 151, doi. 10.1038/ng1163
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- Publication type:
- Article
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 218, doi. 10.1038/90050
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- Publication type:
- Article
Uncombable hair improved by biotin.
- Published in:
- JEADV Clinical Practice, 2023, v. 2, n. 2, p. 313, doi. 10.1002/jvc2.105
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- Publication type:
- Article
DOMESTIC OFFSET PROJECTS: LIMITED OPPORTUNITIES IN GERMANY BUT POTENTIAL FOR OTHERS?
- Published in:
- Energy & Environment, 2006, v. 17, n. 4, p. 569, doi. 10.1260/095830506778644260
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- Publication type:
- Article
Designing National Allocation Plans For EU-Emissions Trading - A First Analysis of the Outcomes.
- Published in:
- Energy & Environment, 2004, v. 15, n. 3, p. 375, doi. 10.1260/0958305041494657
- By:
- Publication type:
- Article
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
- Published in:
- Experimental Dermatology, 2017, v. 26, n. 6, p. 536, doi. 10.1111/exd.13123
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- Publication type:
- Article
Genetics and other factors in the aetiology of female pattern hair loss.
- Published in:
- Experimental Dermatology, 2017, v. 26, n. 6, p. 510, doi. 10.1111/exd.13373
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- Publication type:
- Article
Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 ( P2 RY5) gene in a Turkish family with hypotrichosis and woolly hair.
- Published in:
- Experimental Dermatology, 2012, v. 21, n. 6, p. 469, doi. 10.1111/j.1600-0625.2012.01504.x
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- Publication type:
- Article
Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: No association with female pattern hair loss identified.
- Published in:
- Experimental Dermatology, 2012, v. 21, n. 5, p. 390, doi. 10.1111/j.1600-0625.2012.01469.x
- By:
- Publication type:
- Article
Auction Format and Auction Sequence in Multi-item Multi-unit Auctions: An Experimental Study.
- Published in:
- Economic Journal, 2017, v. 127, n. 605, p. F351, doi. 10.1111/ecoj.12403
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- Publication type:
- Article
A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129811
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- Publication type:
- Article
First East Asian case of uncombable hair syndrome.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 10, p. 1433, doi. 10.1111/ddg.15498
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- Publication type:
- Article
Erster ostasiatischer Fall des Syndroms der unkämmbaren Haare.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 10, p. 1433, doi. 10.1111/ddg.15498_g
- By:
- Publication type:
- Article
Genexpressionsprofile beim Porokarzinom deuten auf heterogene Tumorentwicklung hin und untermauern Porome als Vorläuferläsionen.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 8, p. 1115, doi. 10.1111/ddg.15445_g
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- Publication type:
- Article
Gene expression profiling in porocarcinoma indicates heterogeneous tumor development and substantiates poromas as precursor lesions.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2024, v. 22, n. 8, p. 1115, doi. 10.1111/ddg.15445
- By:
- Publication type:
- Article
POGLUT1‐Varianten bei Morbus Dowling‐Degos ‐ Assoziation mit spezifischen klinischen und histopathologischen Merkmalen?
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2023, v. 21, n. 5, p. 540, doi. 10.1111/ddg.15111_g
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- Publication type:
- Article
Ausgewählte Genodermatosen – Stand der Dinge und Zukunftsaussichten.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2023, v. 21, n. 4, p. 337, doi. 10.1111/ddg.15054_g
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- Publication type:
- Article
Selected genodermatoses – Status quo and future prospects.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2023, v. 21, n. 4, p. 337, doi. 10.1111/ddg.15054
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- Publication type:
- Article
Phänotypische Vielfalt bei Varianten im TP63‐Gen.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 6, p. 871, doi. 10.1111/ddg.14770_g
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- Publication type:
- Article
Phenotype diversity associated with TP63 mutations.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2022, v. 20, n. 6, p. 872, doi. 10.1111/ddg.14770
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- Publication type:
- Article
A woman with hyperpigmented macules and papules.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2021, v. 19, n. 11, p. 1656, doi. 10.1111/ddg.14487
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- Publication type:
- Article
Eine Frau mit hyperpigmentierten Maculae und Papeln.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2021, v. 19, n. 11, p. 1655, doi. 10.1111/ddg.14487_g
- By:
- Publication type:
- Article
Zwei Frauen mit Haarverlust.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 8, p. 845, doi. 10.1111/ddg.13886_g
- By:
- Publication type:
- Article
Two females with hair loss.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 8, p. 845, doi. 10.1111/ddg.13886
- By:
- Publication type:
- Article
Ein neues Forum für seltene Hauterkrankungen.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, n. 6, p. 672, doi. 10.1111/ddg.13863
- By:
- Publication type:
- Article
In or out: efficient inclusion of installations in an emissions trading scheme?
- Published in:
- Journal of Regulatory Economics, 2010, v. 37, n. 2, p. 162, doi. 10.1007/s11149-009-9109-0
- By:
- Publication type:
- Article
Selected variants of the melanocortin 4 receptor gene ( MC4R) do not confer susceptibility to female pattern hair loss.
- Published in:
- Archives of Dermatological Research, 2013, v. 305, n. 3, p. 249, doi. 10.1007/s00403-012-1296-3
- By:
- Publication type:
- Article
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair.
- Published in:
- Archives of Dermatological Research, 2009, v. 301, n. 8, p. 621, doi. 10.1007/s00403-009-0971-5
- By:
- Publication type:
- Article
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
- Published in:
- Archives of Dermatological Research, 2009, v. 301, n. 5, p. 391, doi. 10.1007/s00403-008-0903-9
- By:
- Publication type:
- Article
Identification of mutations in the human hairless gene in two new families with congenital atrichia.
- Published in:
- Archives of Dermatological Research, 2007, v. 299, n. 3, p. 157, doi. 10.1007/s00403-007-0747-8
- By:
- Publication type:
- Article
Hair loss, facial dysmorphology, and skeletal alterations – a diagnostic challenge.
- Published in:
- International Journal of Dermatology, 2021, v. 60, n. 10, p. e419, doi. 10.1111/ijd.15718
- By:
- Publication type:
- Article
Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness.
- Published in:
- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0256846
- By:
- Publication type:
- Article
Dermatological diseases from a genetic perspective.
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 1, p. 1, doi. 10.1515/medgen-2023-2009
- By:
- Publication type:
- Article
Recent advances in the genetics of alopecia areata.
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 1, p. 15, doi. 10.1515/medgen-2023-2004
- By:
- Publication type:
- Article
The FU gene and its possible protein isoforms.
- Published in:
- BMC Genomics, 2004, v. 5, p. 1, doi. 10.1186/1471-2164-5-49
- By:
- Publication type:
- Article
Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non‐Herlitz junctional epidermolysis bullosa in two paternal half‐brothers from Saudi Arabia.
- Published in:
- Congenital Anomalies, 2019, v. 59, n. 3, p. 99, doi. 10.1111/cga.12294
- By:
- Publication type:
- Article
Generalized Solar Lentigines in a Patient with a History of Radon Exposure.
- Published in:
- Dermatology (10188665), 2010, v. 221, n. 3, p. 206, doi. 10.1159/000316091
- By:
- Publication type:
- Article