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Indian Journal of Psychological Medicine|April 27, 2016
Cognitive Dysfunction and its Determinants in Patients with NeurocysticercosisVinod Varghese, Sadanandavalli Retnaswami Chandra, Rita Christopher, et al.
Indian Journal of Psychological Medicine|March 25, 2016
Factors Determining Cognitive Dysfunction in Cerebral Small Vessel DiseaseVinod Varghese, Sadanandavalli Retnaswami Chandra, Rita Christopher, et al.
BMC Medical Genomics|March 6, 2024
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and reviewLaurence Pacot, Milind Girish, Samantha Knight, et al.
American Journal of Medical Genetics. Part A|April 23, 2020
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature reviewAnna Durkin, Shadi Albaba, Andrew E Fry, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
A clinical scoring system for congenital contractural arachnodactylyIlse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.
Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.
American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.
Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.
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