Results 321 to 330 of about 1,021,105 (352)

A New Phenotype–Genotype Correlation for FIG4 and Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Iro Boura, Panayiotis Mitsias, Sofia Erimaki, Efrosini Papadaki, Cleanthe Spanaki   +4 more
wiley   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.

Dev Neurosci
Qin Y, Cao H, Liu L, Yi M, Wang T, Zeng L, Wang X, Xu R, Zhang C, Li H, Song J.   +10 more
europepmc   +1 more source

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.

J Clin Endocrinol Metab
McGlacken-Byrne SM, Suntharalingham JP, Ishida M, Buonocore F, Del Valle I, Cameron-Pimblett A, Dattani MT, Achermann JC, Conway GS.   +8 more
europepmc   +1 more source

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Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.

JAMA pediatrics, 2023
Importance Exome sequencing is a first-tier diagnostic test for individuals with neurodevelopmental disorders, including intellectual disability/developmental delay and autism spectrum disorder; however, this recommendation does not include cerebral ...
P. González-Mantilla, Yirui Hu, S. Myers, B. Finucane, D. Ledbetter, C. Martin, A. Moreno-De-Luca   +6 more
semanticscholar   +1 more source

Exome Sequencing

Springer Protocols Handbooks, 2021
A. Pal
semanticscholar   +1 more source

Exome sequencing in obsessive–compulsive disorder reveals a burden of rare damaging coding variants

Nature Neuroscience, 2021
Mathew Halvorsen, J. Samuels, Ying Wang, B. Greenberg, A. Fyer, J. McCracken, D. Geller, J. Knowles, Anthony W. Zoghbi, T. Pottinger, M. Grados, M. Riddle, O. Bienvenu, P. Nestadt, Janice Krasnow, F. Goes, B. Maher, G. Nestadt, D. Goldstein   +18 more
semanticscholar   +1 more source