المؤلفون: Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen

المصدر: EMBO Molecular Medicine, Vol 15, Iss 11, Pp n/a-n/a (2023)

مصطلحات موضوعية: brittle hair phenotype, epithelial barrier function, mRNA splicing, skin differentiation, TTDN1, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/00a4d41179d0455f867ed390b4be7d8b

المؤلفون: Nassim Tootoonchi, Vahideh Azhari, Zahra Razavi, Shadab Seraji, Nika Kianfar, Hamidreza Mahmoudi, Maryam Daneshpazooh

المصدر: Case Reports in Dermatology, Vol 14, Iss 2, Pp 184-187 (2022)

مصطلحات موضوعية: trichothiodystrophy, polarized light, brittle hair, autosomal recessive, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/525383; https://doaj.org/toc/1662-6567

URL الوصول: https://doaj.org/article/fbb580e8b83049c6a86025d79e7ed2f8

المؤلفون: Marely Santiago-Vázquez, MD, Eduardo A. Michelen-Gómez, MD, Alvaro J. Ramos, MD, Julián Barrera, MD, Marisel Vázquez Correa, MD, Janice Rodriguez, MD, Alma Cruz, MD

المصدر: JAAD Case Reports, Vol 18, Iss , Pp 33-36 (2021)

مصطلحات موضوعية: ATP7A gene, brittle hair, Menkes Disease, pili torti, seizures of unknown etiology, trichorrhexis nodosa, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512621007190; https://doaj.org/toc/2352-5126

URL الوصول: https://doaj.org/article/32f11976eb7547e8904b114fd1d9c6e5

المؤلفون: Jian-Dong Chen, Wei-Dong Liao, Ling-Ying Wen, Rong-Hua Zhong

المصدر: BMC Pediatrics, Vol 21, Iss 1, Pp 1-4 (2021)

مصطلحات موضوعية: ERCC2, Trichothiodystrophy, Brittle hair, Genodermatoses, Novel variant, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/2c054ef4c6154f749b233416bf322393

المؤلفون: Chen, Jian-Dong, Liao, Wei-Dong, Wen, Ling-Ying, Zhong, Rong-Hua^Aff1

المصدر: BMC Pediatrics. 21(1)

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Alma Cruz, Marely Santiago-Vázquez, Alvaro J Ramos, Julián Barrera, Eduardo A. Michelen-Gómez, Janice Rodriguez, Marisel Vázquez Correa

المصدر: JAAD Case Reports
JAAD Case Reports, Vol 18, Iss, Pp 33-36 (2021)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, LM, light microscopy, Case Report, Dermatology, trichorrhexis nodosa, medicine, MD, Menkes disease, Pili torti, Brittle hair, business.industry, TN, trichorrhexis nodosa, Trichorrhexis nodosa, pili torti, medicine.disease, LM - Light microscopy, Menkes Disease, PT, pili torti, RL1-803, Etiology, Menkes disease, brittle hair, medicine.symptom, business, seizures of unknown etiology, ATP7A gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab8986fcb386a9fa1d3cc4e53365956e
http://europepmc.org/articles/PMC8590027

المؤلفون: Rakowska, Adriana^Aff00141, Olszewska, Malgorzata^Aff00142

المساهمون: Rudnicka, Lidia, editor^AffID1, Olszewska, Malgorzata, editor^AffID2, Rakowska, Adriana, editor^AffID3

المصدر: Atlas of Trichoscopy : Dermoscopy in Hair and Scalp Disease. :183-187

المؤلفون: Stefanini, Miria^{Aff4, Aff5}, Ruggieri, Martino^Aff6

المساهمون: Ruggieri, Martino, editor^Aff1, Pascual-Castroviejo, Ignacio, editor^Aff2, Di Rocco, Concezio, editor^Aff3

المصدر: Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. :821-845

المؤلفون: Subhadra Ramaanthan, Robin D. Clark

المصدر: Neonatology Today. 16:143-146

مصطلحات موضوعية: medicine.medical_specialty, Brittle hair, business.industry, Congenital ichthyosis, Trichothiodystrophy, medicine, Neutropenia, medicine.disease, business, Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4e663d549aa82ddff1fb9712f40e2b68
https://doi.org/10.51362/neonatology.today/2021161143146