Results 211 to 220 of about 103,477 (258)

Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach. [PDF]

J Diabetes Res
Sefid F, Dehghan Tezerjani M, Asadollahi S, Madani SA, Pardal T, Imani M, Salmani Z, Rahmanian M, Hozhabri H, Kalantar SM, Vahidi Mehrjardi MY.   +10 more
europepmc   +1 more source

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report. [PDF]

Front Pediatr
Zhong G, Wang K, Liao K, Xie Q, Chen J, Yu R.   +5 more
europepmc   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

Genome Variation in Alcohol Use Disorder by Whole-Exome Sequencing. [PDF]

Addict Biol
Liu L, Zhang B, Dong Y, Liu LP, Wang JY, Liu J, Zhou GY, Kang CY, Hu X, Cheng C, Zhao N, Lu J, Wang H, Hu J, Wang X.   +14 more
europepmc   +1 more source

GLUT1 Deficiency Syndrome with Coexistent Movement Disorder and Anemia

Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan, Haya S AlFaris, Anika Menetrey, Sayoni Roy Chowdhury, Lindsey Vogt, Jolynn Dickson, Karen Owusu, Pradeep Krishnan, Suvasini Sharma, Liali Aljouda, Reena Pabari, Grace Yoon, Carolina Gorodetsky   +12 more
wiley   +1 more source

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients. [PDF]

PLoS One
Dev P, Blackwell JM, Kumar R, Mishra V, Pathak A.   +4 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

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Whole Exome Sequencing

Dermatitis®, 2013
Our goal is to highlight annually a methodology of significance to the journal’s domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.
Donald A, Glass, And Anthony A, Nuara
openaire   +4 more sources

Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma [PDF]

Cancers, 2021
Background: With minimally effective chemotherapy options, cholangiocarcinoma patients have 5 year survival rate of 10%. Tumor genetic profiling (TGP) can identify mutations susceptible to targeted therapies. We sought to describe the use of TGP and frequency of actionable results in resected cholangiocarcinoma.
Daneng Li, Laleh Melstrom, Vincent Chung   +2 more
exaly   +3 more sources