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Research article

First published 2013-3

The Very Low Density Lipoprotein Receptor–Associated Pontocerebellar Hypoplasia and Dysmorphic Features in Three Turkish Patients

Fatma Mujgan Sonmez, Joseph G. Gleeson, Figen Celep [...]

Journal of Child Neurology

Open access

Case report

First published 2024

Congenital hiatal hernia with vermis hypoplasia,dysmorphic features and negative genetic study: A case report

Ramzi H Mujahed, Manal M Shaheen, Ikram M Abusafa [...]

Sage Open Medical Case Reports

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Case report

First published 2016-7

Case Report: Congenital Erythroleukemia in a Premature Infant with Dysmorphic Features

Heidi Helin, Jon van der Walt, Muriel Holder [...]

Pediatric and Developmental Pathology

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Research article

First published 2014-3

Familial Distal Monosomy 5p15.3-pter With Trisomy 12q24.2-qter Resulting in Neurodevelopmental Delay and Dysmorphic Features

Živilė Čiuladaitė, Aušra Matulevičienė, Aušra Bandanskytė [...]

Journal of Child Neurology

Free access

Research article

First published 2017-6

Prevalence and correlates of body dysmorphic disorder in a community sample of adolescents

Sophie C Schneider, Cynthia M Turner, Jonathan Mond [...]

Australian & New Zealand Journal of Psychiatry

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Other

First published 2002-01

Pontocerebellar Hypoplasia in Two Siblings With Dysmorphic Features

Embiya Dilber, Fatma Müjgan Aynaci, Ali Ahmetoglu

Journal of Child Neurology

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Research article

First published 1993-9

Genetic Survey of a Group of Children with Clefting: Implications for Genetic Counseling

Yvonne Hofstee, Nico Kors, Raoul C.M. Hennekam

The Cleft Palate Craniofacial Journal

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Research article

First published 2004-1

A Case Report of Duplication of X-Chromosome Material in a 3 Year Old Male with Minor Dysmorphic Features and Developmental Delay

R. Owen, P.A. Swidler, A.M. Slavotinek [...]

Journal of Investigative Medicine

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Case report

First published 2022-3

Intrahepatic Cholestasis,Refractory Epilepsy,Skeletal Dysplasia,Endocrine Failure,and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11

Rodrigo Tzovenos Starosta, Jorge Luis Granadillo, Kalyani R Patel [...]

Pediatric and Developmental Pathology

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Research article

First published 2022-9

Down Syndrome Detection Through Graphical Analysis of Facial Dysmorphic Features in Newborn Children With Ethnicity/Racial Slicing: An AI/ML-Based Approach

Saanvi Mehra, Binoy Shah, Ankur Sethi [...]

Journal of Neonatology

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