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Retricted access

Research article

First published 2018-9

De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus

Conor S. Ryan, Anthony L. Fine, Alexander L. Cohen [...]

Journal of Child Neurology

Retricted access

Research article

First published 2020-03

Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing

Baran Erman, Funda Çipe

Pediatric Allergy,Immunology,and Pulmonology

Open access

Case report

First published 2026

A Case Report of I-Cell Disease (Mucolipidosis Type II) With a Novel Placental-Focused Diagnostic Approach

Nicolas LaScala, Laura Rose, Jennifer Sanchez [...]

Pediatric and Developmental Pathology

Open access

Brief report

First published 2014-1-7

A Novel p.Leu(381)Phe Mutation in Presenilin 1 is Associated with Very Early Onset and Unusually Fast Progressing Dementia as well as Lysosomal Inclusions Typically Seen in Kufs Disease

Natalia Dolzhanskaya, Michael A. Gonzalez, Fiorella Sperziani [...]

Journal of Alzheimer’s Disease

Free access

Research article

First published 2024-1

Current Practices for Genetic Testing in Neonatal Extracorporeal Membrane Oxygenation: Findings from a National survey

K. Taylor Wild, Franscesca Miquel-Verges, Natalie E Rintoul [...]

Perfusion

Open access

Other

First published 2016

RefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing

Lun-Ching Chang, Biswajit Das, Chih-Jian Lih [...]

Cancer Informatics

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Research article

First published 2025

Primary Uterine Angiosarcoma Presenting With Omental Metastasis,Lymph Node Involvement,and Demonstrating a Null p53 Mutational Staining Pattern

Jacob Rattin, Tatiana Buhtoiarova, Natalie Banet

International Journal of Surgical Pathology

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Research article

First published 2017-9

Association of NOD2 Mutations with Aggressive Periodontitis

T. Sudo, Y. Okada, K. Ozaki [...]

Journal of Dental Research

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Research article

First published 2017-7

ABCA4 Mutation in a Patient With Juvenile Neuronal Ceroid Lipofuscinosis

Daniela Reyes-Capó, Camila V. Ventura, Mustafa Tekin [...]

Journal of VitreoRetinal Diseases

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Research article

First published 2015-11

CAOS—Episodic Cerebellar Ataxia,Areflexia,Optic Atrophy,and Sensorineural Hearing Loss

Gali Heimer, Yair Sadaka, Lori Israelian [...]

Journal of Child Neurology

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