Waardenburg syndrome and neural tube defects

Male patients affected by mosaic PCDH19 mutations: five new cases.

Neurogenetics·2017

Epidemiology, pathophysiology and putative genetic basis of carbamazepine- and oxcarbazepine-induced hyponatremia.

European journal of neurology·2016

Effect of oral contraceptives on lamotrigine levels depends on comedication.

Acta neurologica Scandinavica·2014

Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene.

Epilepsy & behavior : E&B·2013

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

Neurogenetics·2013

Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis.

Epilepsy research·2010

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Iron Deficiency Anemia in Pregnancy: Status and Contributing Factors Among Women in Northern Asir, Saudi Arabia.

Journal of visualized experiments : JoVE·2026

MGAT5 regulates ferroptosis via the Nrf2/HO-1 signaling pathway in diabetic nephropathy.

Open life sciences·2026

Selenium and selenoproteins in age-related metabolic diseases: mechanistic insights and translational perspectives.

Frontiers in nutrition·2026

Translational advances in diabetic nephropathy management: integrating nanoformulation-based drug delivery systems.

Frontiers in medical technology·2026

Association of nutritional indices with early clinical remission in patients with moderate-to-severe ulcerative colitis treated with vedolizumab.

Therapeutic advances in gastroenterology·2026

Gastropexy-Assisted vs. Gastropexy-Free Introducer Percutaneous Endoscopic Gastrostomy: A Prospective Randomized Trial.

Endoscopy international open·2026

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Waardenburg syndrome and neural tube defects

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Male patients affected by mosaic PCDH19 mutations: five new cases.

Epidemiology, pathophysiology and putative genetic basis of carbamazepine- and oxcarbazepine-induced hyponatremia.

Effect of oral contraceptives on lamotrigine levels depends on comedication.

Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene.

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis.

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Limb anomalies: Developmental and evolutionary aspects.

Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

Iron Deficiency Anemia in Pregnancy: Status and Contributing Factors Among Women in Northern Asir, Saudi Arabia.

MGAT5 regulates ferroptosis via the Nrf2/HO-1 signaling pathway in diabetic nephropathy.

Selenium and selenoproteins in age-related metabolic diseases: mechanistic insights and translational perspectives.

Translational advances in diabetic nephropathy management: integrating nanoformulation-based drug delivery systems.

Association of nutritional indices with early clinical remission in patients with moderate-to-severe ulcerative colitis treated with vedolizumab.

Gastropexy-Assisted vs. Gastropexy-Free Introducer Percutaneous Endoscopic Gastrostomy: A Prospective Randomized Trial.

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Waardenburg syndrome and neural tube defects

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