Sage Journals: Discover world-class research

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Case report

First published 2019-08-30

Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies

P. Kamalapathy, J.S. Fonda Allen, C. J. Macri [...]

Journal of Neonatal-Perinatal Medicine

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Research article

First published 2017-9

Postmortem Whole Exome Sequencing Identifies Novel EIF2B3 Mutation With Prenatal Phenotype in 2 Siblings

Hannah Song, Sina Haeri, Hannes Vogel [...]

Journal of Child Neurology

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Case report

First published 2018-5

Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker–Warburg Syndrome

Zöe Powis, Adam C Chamberlin, Christina L Alamillo [...]

Pediatric and Developmental Pathology

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Research article

First published 2023-10

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus

Mengdi Ge, Chunmin Ji, Huanzhen Li [...]

DNA and Cell Biology

Open access

Research article

First published 2020-2

Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient

Qin Zhang, Minjuan Liu, Yinghua Liu [...]

Journal of International Medical Research

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Case report

First published 2024-11

The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction

Nicoleta-Andreea Bobric, Julie Grevoul-Fesquet, Luc Rigonnot [...]

Pediatric and Developmental Pathology

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Research article

First published 2013-3

Genetics and global healthcare

AH Bittles

Journal of the Royal College of Physicians of Edinburgh

Open access

Research article

First published 2020-1

Whole exome sequencing aids the diagnosis of Simpson–Golabi–Behmel syndrome in two male fetuses

Jingjing Xiang, Qin Zhang, Xiaoyan Song [...]

Journal of International Medical Research

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Case report

First published 2022-9

Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant

Auriane Cospain, Marie Faoucher, Aurélie Cauchois [...]

Pediatric and Developmental Pathology

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Research article

First published 2020-02

Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing

Naima Khan, Naureen Akhtar, Fehmida Farid Khan [...]

Genetic Testing and Molecular Biomarkers

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