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Results for
""Foot Deformities, Congenital""[mesh_terms]

9 Results

Searching titles within these results

Two novel GJA1 variants in oculodentodigital dysplasia.

Nikolai P Pace, Valerie Benoit, David Agius, Maria Angela Grima, Raymond Parascandalo, Pascale Hilbert, Isabella Borg

Molecular genetics & genomic medicine 2020;7(9):e882

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Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

Panfeng Wang, Zhirong Wang, Limei Sun, Chonglin Chen, Aiyuan Zhang, Weiqing Wang, Xiaoyan Ding

Ophthalmic genetics 2020;40(1):54-59

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The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

Roderick P P W M Maas, Jolanda H Schieving, Meyke Schouten, Erik-Jan Kamsteeg, Bart P C van de Warrenburg

Pediatric neurology 2017;59():71-75.e1

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ATP1A3-related disorders: An update.

Miryam Carecchio, Giovanna Zorzi, Francesca Ragona, Federica Zibordi, Nardo Nardocci

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018;22(2):257-263

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Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.

Francesca Mari, Alessandra Renieri, Benedikt Hofmeister, Celina von Stülpnagel, Cornelia Betzler, Margherita Baldassarri, Gerhard Kluger, Steffen Berweck, Shan Tang, Katja Ahlbory, Peter Weber, Stefan Schilling, Katrien Jansen, Edda Haberlandt

Neuropediatrics 2021;52(2):109-122

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Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.

Bartosz Rodziewicz, Mikołaj Kacperski, Kacper Kisiński, Marta Zawadzka, Anna Kalicka, Agnieszka Sawicka, Beata Lipska-Ziętkiewicz, Maria Mazurkiewicz-Bełdzińska

Biomolecules 2026;16(8):

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Novel pregnancy-triggered episodes of CAPOS syndrome.

Irene J Chang, Margaret P Adam, Suman Jayadev, Thomas D Bird, Niranjana Natarajan, Ian A Glass

American journal of medical genetics. Part A 2018;176(1):235-240

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Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Xue Wang, Qian Xin, Lin Li, Jiangxia Li, Changwu Zhang, Rongfang Qiu, Chenmin Qian, Hailing Zhao, Yongchao Liu, Shan Shan, Jie Dang, Xianli Bian, Changshun Shao, Yaoqin Gong, Qiji Liu

European journal of human genetics : EJHG 2015;22(9):1105-10

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Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.

Muhammad Faiyaz-Ul-Haque, Wasim Ahmad, Abdul Wahab, Sayedul Haque, Anser C Azim, Syed H E Zaidi, Ahmad S Teebi, Mahmud Ahmad, Daniel H Cohn, Teepu Siddique, Lap-Chee Tsui

American journal of medical genetics 2003;111(1):31-7

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Results: 1 – 9 / 9

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Results for ""Foot Deformities, Congenital""[mesh_terms]

Two novel GJA1 variants in oculodentodigital dysplasia.

Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review.

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

ATP1A3-related disorders: An update.

Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.

Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.

Novel pregnancy-triggered episodes of CAPOS syndrome.

Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.

Results for
""Foot Deformities, Congenital""[mesh_terms]