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Results for
""Nails, Malformed""[mesh_terms]

16 Results

Searching titles within these results

Painful nails: A practical approach to the diagnosis and management of painful nail conditions.

Valeria Olvera-Rodríguez, Michelle Gatica-Torres, Judith Domínguez-Cherit, Alejandro Barrera-Godínez, Dulce María Carrillo-Córdova

International journal of dermatology 2021;60(11):1318-1333

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Review of Nail Lichen Planus: Epidemiology, Pathogenesis, Diagnosis, and Treatment.

Shari R Lipner, Mohit Kumar Gupta

Dermatologic clinics 2021;39(2):221-230

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Evaluation of nail abnormalities.

Amber S Tully, Kathryn P Trayes, James S Studdiford

American family physician 2013;85(8):779-87

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DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Ed Blair, Philippe M Campeau, Raoul C M Hennekam, Sanjay M Sisodiya, Alexandre Dionne-Laporte, Juliet Taylor, Sirinart Molidperee, Yolande van Bever, Maria Vittoria Camurri, Marzena Wisniewska, Pernille Mathiesen Tørring, Lisbeth Tranebjærg, Claudia Castiglioni, Denes Zadori, Susan M White, Dina Vind-Kezunovic, Tabib Dabir, Klaus Dieterich, Jessica Tardif, Norbert F Ajeawung, Guillermo Pacheco-Cuellar, Eliane Beauregard-Lacroix

Genetics in medicine : official journal of the American College of Medical Genetics 2021;23(1):149-154

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Yellow nails syndrome in two siblings.

Thaer Douri

Dermatology online journal 2009;14(9):7

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Long-lasting remission in a case of Cronkhite-Canada syndrome.

Maria Pina Dore, Rosanna Satta, Alberto Murino, Giovanni Mario Pes

BMJ case reports 2018;2018():bcr2017223527

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Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.

Ali Dursun, Safak Gucer, M S Ebberink, Sule Yigit, R J A Wanders, H R Waterham

Journal of inherited metabolic disease 2013;32 Suppl 1():S345-8

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The genetic basis of pachyonychia congenita.

Frances J D Smith, Haihui Liao, Andrew J Cassidy, Arlene Stewart, Kevin J Hamill, Pamela Wood, Iris Joval, Maurice A M van Steensel, Erik Björck, Faith Callif-Daley, Gerald Pals, Paul Collins, Sancy A Leachman, Colin S Munro, W H Irwin McLean

The journal of investigative dermatology. Symposium proceedings 2005;10(1):21-30

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Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.

Yong-Yi Yuan, Pu Dai, Xue Gao

Human genetics 2022;141(3-4):821-838

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A systematic review of reported cases of pachyonychia congenita tarda.

A Tatiane, D Slape, R Lawless, J W Frew

Clinical and experimental dermatology 2020;44(6):606-612

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Hypopigmented Macules With Onychodystrophy: Answer.

Kiran Motaparthi, Mason Henehan, Wallace Nozile, Maria Isabel Longo, Addie Walker

The American Journal of dermatopathology 2020;42(1):66-67

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"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.

Mark James Hamilton, Mohnish Suri

Advances in genetics 2021;105():137-174

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RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.

Nadina Ortiz Brüchle, Jorge Frank, Valeska Frank, Jan Senderek, Ahmet Akar, Erol Koc, Dimitris Rigopoulos, Maurice van Steensel, Klaus Zerres, Carsten Bergmann

The Journal of investigative dermatology 2008;128(4):791-6

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Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.

Francesco Petrizzelli, Viviana Caputo, Chiara Parisi, Antonio Pizzuti, Tommaso Mazza, Massimo Carella, Marco Tartaglia, Carlo Cogoni, Sara Lazzari, Agnese Giovannetti, Valentina Pace, Caterina Catalanotto, Alice Traversa, Noemi Panzironi, Giulia Napoli

Molecular neurobiology 2022;59(8):4825-4838

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Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.

Hongfang Ding, Xiaohua Zhang, Hui Wang

Clinical dysmorphology 2021;30(1):27-31

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Results: 1 – 15 / 16

Filters

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Results for ""Nails, Malformed""[mesh_terms]

Painful nails: A practical approach to the diagnosis and management of painful nail conditions.

Review of Nail Lichen Planus: Epidemiology, Pathogenesis, Diagnosis, and Treatment.

Evaluation of nail abnormalities.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant.

Yellow nails syndrome in two siblings.

Long-lasting remission in a case of Cronkhite-Canada syndrome.

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.

The genetic basis of pachyonychia congenita.

Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.

A systematic review of reported cases of pachyonychia congenita tarda.

Hypopigmented Macules With Onychodystrophy: Answer.

"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.

RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.

Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.

Results for
""Nails, Malformed""[mesh_terms]