Results 151 to 158 of about 4,368 (158)

A 17q21.31 Microduplication, Reciprocal to the Newly Described 17q21.31 Microdeletion, in a Girl With Severe Psychomotor Developmental Delay and Dysmorphic Craniofacial Features

European Journal of Medical Genetics, 2007
Morten Duno, Anne-Marie Bisgaard, Maria Kirchhoff   +2 more
exaly  

22q13 Microduplication in Two Patients With Common Clinical Manifestations: A Recognizable Syndrome?

American Journal of Medical Genetics, Part A, 2007
Nobuhiko Okamoto, Shin Hayashi, Issei Imoto   +2 more
exaly  

3q29 Microduplication in a Small Family With Complex Metabolic Phenotype From Southern Italy

Clinical Chemistry and Laboratory Medicine, 2018
Lucio Pastore, Giuseppe Labruna, Carmela Nardelli   +2 more
exaly  

Exome Sequencing Identified a De Novo Mutation of PURA Gene in a Patient With Familial Xp22.31 Microduplication

European Journal of Medical Genetics, 2019
Wendy P. Robinson, Evica Rajcan-Separovic, Suzanne Lewis   +2 more
exaly  

A Mosaic Intragenic Microduplication of LAMA1 and a Constitutional 18p11.32 Microduplication in a Patient With Keratosis Pilaris and Intellectual Disability

American Journal of Medical Genetics, Part A, 2018
Ekaterina Vorotelyak, Ekaterina Tolmacheva, Igor Lebedev   +2 more
exaly  

22q11.2 Microduplication in a Family With Recurrent Fetal Congenital Heart Disease

European Journal of Medical Genetics, 2011
Yi Long, Zhengfeng Xu, Dingyuan Ma
exaly  

5p13 Microduplication Syndrome: A New Case and Better Clinical Definition of the Syndrome

European Journal of Medical Genetics, 2013
Stefano D'Arrigo, Roberto Giorda, Roberto Ciccone   +2 more
exaly  

16p11.2 Microduplication and Associated Symptoms: A Case Study

Applied Neuropsychology: Child, 2018
exaly