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Congenital heart defects in the recurrent 2q13 deletion syndrome.

European journal of medical genetics·2021

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Clinical genetics·2018

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Clinical genetics·2018

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Clinical genetics·2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Clinical genetics·2017

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology·2013

Expanding Clinical and Variant Spectrum of CBX1-Related Syndrome: Report of Three Novel Cases.

Clinical genetics·2026

Analysis of Genomic Testing of Congenital Heart Disease in a Cohort From a Consanguineous Population.

Clinical genetics·2026

A Homozygous ALCAM-CBLB Deletion at 3q13.11-q13.12 Defines a Candidate Novel Oculo-Skeletal-Immune Contiguous Gene Deletion Syndrome.

Clinical genetics·2026

Two Truncating MITF Variants Expand the Phenotypic Spectrum of COMMAD Syndrome.

Clinical genetics·2026

Compound-Heterozygous PLVAP Missense Variants Associated With Attenuated Protein-Losing Enteropathy (DIAR10).

Clinical genetics·2026

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

Clinical genetics·2026

WEBINO Syndrome Secondary to Multiple Sclerosis Treated Surgically.

Archivos de la Sociedad Espanola de Oftalmologia·2026

Obstructive sleep apnea and selected comorbidities - a literature review of cohort studies.

Archives of medical science : AMS·2026

Clinical, polysomnographic, and psychological profiles across questionnaire-defined symptom groups in obstructive sleep apnea.

Frontiers in medicine·2026

Long-term clinical experience with a 3-step combined technique for involutional lower eyelid entropion and ectropion based on common pathophysiologic mechanisms.

Frontiers in surgery·2026

Orbital decompression with intraorbital corticosteroid injection during the active phase of thyroid eye disease: outcomes in a real-world cohort.

Frontiers in ophthalmology·2026

Cataract surgery and a challenging postoperative course in a child with Blau syndrome: a case report.

Journal of medical case reports·2026

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Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta

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Congenital heart defects in the recurrent 2q13 deletion syndrome.

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Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

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