Search Result "probands"


General Research Article

Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing

Journal: Current Genomics
Volume: 20 Issue: 7 Year: 2019 Page: 531-534
Author(s): Masoud Heidari,Morteza Soleyman-Nejad,Mohammad H. Taskhiri,Javad Shahpouri,Alireza Isazadeh,Roghayyeh Ahangari,Ali R. Mohamadi,Masoumeh Ebrahimi,Hadi Karimi,Manzar Bolhassani,Zahra Karimi,Mansour Heidari

The Genetics of Obsessive-Compulsive Disorder

Journal: Current Psychiatry Reviews
Volume: 6 Issue: 2 Year: 2010 Page: 91-103
Author(s): Michael H. Bloch, Christopher Pittenger

Research Article

Circulating Levels of 5-HT and BDNF in Adults with AutismSpectrum Conditions: An Investigation in a Sample of Subjects withAutism Spectrum Disorder, their First-degree Relatives and Controls

Journal: Current Medicinal Chemistry
Volume: 31 Issue: 6 Year: 2024 Page: 776-790
Author(s): Ivan Mirko Cremone

Research Article

Probable Novel PSEN1 Gln222Leu Mutation in a Chinese Family with Early-Onset Alzheimer's Disease

Journal: Current Alzheimer Research
Volume: 16 Issue: 8 Year: 2019 Page: 764-769
Author(s): Huayuan Wang,Ruihua Sun,Yingying Shi,Mingrong Xia,Jing Zhao,Miaomiao Yang,Limin Ma,Yajing Sun,Gai Li,Haohan Zhang,Weiwei Qin,Jiewen Zhang

Book of Abstract

Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 10-10
Author(s):

Phenomenology and Neurobiology of Childhood Onset Schizophrenia

Journal: Current Psychiatry Reviews
Volume: 2 Issue: 4 Year: 2006 Page: 463-472
Author(s): Anna E. Ordonez, Nitin Gogtay

Research Article

A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7

Journal: Current Molecular Medicine
Volume: 17 Issue: 6 Year: 2017 Page: 450-457
Author(s): B. Wu,Y. Zhang,H. Tang,M. Yang,H. Long,G. Shi,J. Tang,X. Shi

BRCA1 and BRCA2 Molecular Testing in Women with Different Risk of Hereditary Breast Cancer: ost/Effectiveness and Psychological Implications

Journal: Current Women`s Health Reviews
Volume: 8 Issue: 1 Year: 2012 Page: 12-16
Author(s): Liborio Stuppia

Review Article

Novel Mutation of the NOTCH3 Gene in a Chinese Pedigree with CADASIL

Journal: CNS & Neurological Disorders - Drug Targets
Volume: 16 Issue: 1 Year: 2017 Page: 30-35
Author(s): Xiaoxia Hou,Chuan He,Qingwen Jin,Qi Niu,Guang Ren,Hong Cheng

Genetic Polymorphism of the Flavin-Containing Monooxygenase 3 (FMO3) Associated with Trimethylaminuria (Fish Odor Syndrome): Observations from Japanese Patients

Journal: Current Drug Metabolism
Volume: 8 Issue: 5 Year: 2007 Page: 487-491
Author(s): Hiroshi Yamazaki, Makiko Shimizu

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