Results 201 to 210 of about 118,150 (263)

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children. [PDF]

Int J Mol Sci
Mancuso G, Serventi L, Cocco C, Lai F, Soddu C, Marica M, Mereu C, Lorrai M, Tosone GM, Cannas F, Nutile G, Floris M, Savasta S, Giglio S.   +13 more
europepmc   +1 more source

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

JPGN Reports, EarlyView.
Jamie M. Klapp, Lauren Nichols, Nicholas J. Gloude, Amber Hildreth, Kathleen B. Schwarz   +4 more
wiley   +1 more source

Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies. [PDF]

Diagnostics (Basel)
Rodriguez-Revenga L, Ardiles-Ruesjas V, Borrell A.   +2 more
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 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

Clinical exome sequencing identifies novel gene variants associated with ischemic stroke in the Saudi Tabuk population. [PDF]

Front Hum Neurosci
Hamadi A, Mir R, Al-Amer OM, Alasseiri M, AlZamzami W, Alatawi S, Alanazi MA, Moawadh MS, Oyouni AAA, Al Tuwaijri A, Althenayyan S, Madkhali HA, Alserihi R.   +12 more
europepmc   +1 more source

Diabetic Peripheral Neuropathy: Molecular Staging, Risk Factors, Therapeutics, and Emerging Trends

Med Research, EarlyView.
The heterogeneous landscape of DPN can be unified through a tripartite pathogenic model encompassing progressive stages of metabolic dysregulation, chronic inflammation, and overt neuronal damage. Within this framework, six clinical subtypes were identified, namely, hyperglycemia‐driven, dyslipidemia‐driven, inflammation‐driven, dysvascularity‐driven ...
Xiaofeng Dai, Mingze Tang
wiley   +1 more source

Exome Sequencing Uncovers Genetic Drivers of Multiple Sclerosis in a Multiplex Family. [PDF]

Genes (Basel)
Lintas C, Bonora S, Marabotti A, Tabolacci C, Scattoni ML, Capone F, Rossi M, Di Lazzaro V, Gurrieri F.   +8 more
europepmc   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source