Results 191 to 200 of about 106,718 (217)

Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children. [PDF]

Children (Basel)
Zisi A, Kostoulas C, Sesse A, Kosmeri C, Serbis A, Lee H, Georgiou I, Siomou E.   +7 more
europepmc   +1 more source

Expanding the Phenotype of PARK‐PRKN to Spastic Paraplegia: A Report of Two Cases

Movement Disorders Clinical Practice, EarlyView.
Nicolas Geoffre, Thomas Ollivier, Guillaume Baille, Luc Defebvre, Vincent Huin, Eugenie Mutez   +5 more
wiley   +1 more source

Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye. [PDF]

Genes (Basel)
Kayhan G, Ozaslan A, Işeri E, Guney E, Kazan HH, Buyuktaskin D, Mulayim MF, Ergun MA, Percin FE.   +8 more
europepmc   +1 more source

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
europepmc   +1 more source

PINK1‐Associated Juvenile‐Onset Parkinsonism: Marked Phenotypic Variability and Limited Genotype–Phenotype Correlation

Movement Disorders, EarlyView.
Reza Maroofian, Ross Leng, Shilpan G. Patel, Hina Ojha, Heba Hosny, Maha Zaki, Miratul M.K. Muqit, Henry Houlden   +7 more
wiley   +1 more source

Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang.

Hum Hered
Li Y, Cao C, Luo Y, Sun G, Baoerhan R, Julaiti D, Li J, Shen Y, Maimaiti M.   +8 more
europepmc   +1 more source

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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

International Journal of Molecular Sciences, 2021
Maria Antonietta Mencarelli, Anna Maria Pinto, Caterina Lo Rizzo   +2 more
exaly  

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing Data

Cancers, 2021
Savvas Kinalis, Maria Rossing, Arman Simonyan   +2 more
exaly  

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

Genes, 2021
Yaoshen Wang, Xinyao Zhou, Yingjun Yang   +2 more
exaly