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Case report

First published 2015-3

Radioulnar Synostosis and Brain Abnormalities in a Patient with 17q21.31 Microdeletion Involving EFTUD2

Yuri A. Zarate, Carla Bell, G. Bradley Schaefer

The Cleft Palate Craniofacial Journal

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Research article

First published 2024-4

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

Zulvikar Syambani Ulhaq, Gita Vita Soraya, Lola Ayu Istifiani [...]

The Cleft Palate Craniofacial Journal

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Case report

First published 2019-5

Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM,Initially Suspected to Have Alternative Craniofacial Diagnoses

Jennie C. Lacour, Lori McBride, Hugo St. Hilaire [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2026

A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia

Katerina L. Aris, Richard E. Kirschner, Emily Hrach [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2019-12

Proteomic Analysis of Hydroxysafflor Yellow A Against Cerebral Ischemia/Reperfusion Injury in Rats

Hang Xu, Tianlong Liu, Wenjun Wang [...]

Rejuvenation Research

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Research article

First published 2022-9

Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum

Naz Güleray, Can Koşukcu, Sümeyra Oğuz [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2022-11

Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India

Rathika D. Shenoy, Vikram Shetty, Annelies Dheedene [...]

The Cleft Palate Craniofacial Journal

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Research article

First published 2023-2

Weighted gene co-expression network analysis reveals the hub genes associated with pulmonary hypertension

Shengyan Wang, Dejun Sun, Chuanchuan Liu [...]

Experimental Biology and Medicine

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Research article

First published 2016-4

Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease

Li Liu, Alexander Pertsemlidis, Liang-Hao Ding [...]

Experimental Biology and Medicine

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