Results 311 to 320 of about 237,110 (353)

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

Description of a Large Family with Periodic Fever Carrying a Variant in <i>RXFP1</i> Gene: A Possible Novel Modulator of Inflammation in Autoinflammatory Diseases. [PDF]

Int J Mol Sci
Buttarelli M, Rapari G, Riccio M, Manna R, Rigante D, Sangiorgi E.   +5 more
europepmc   +1 more source

Exome Genotyping and Association Genetics of Quantitative Traits in a Clonally Tested Loblolly Pine Population (Pinus taeda L.)

, 2016
Mengmeng Lu
openalex   +1 more source

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

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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.We hope another strength of this new section is simplicity of language that
Donald A, Glass, And Anthony A, Nuara
openaire   +2 more sources

Solution-Phase Exome Capture

Cold Spring Harbor Protocols, 2016
This protocol describes the construction of a paired-end library of genomic DNA (gDNA) and subsequent capture of specific regions of a genome using NimbleGen sequence capture probes and Illumina TruSeq oligos. The captured DNA, purified and quantitated, is appropriate for use as template in Illumina sequencing systems.
Elaine, Mardis, W Richard, McCombie
openaire   +2 more sources

Answers from Exomes

Science Signaling, 2013
Gene sequencing of unrelated patients with recurrent airway infections identifies a common underlying mutation.
openaire   +2 more sources

Whole-exome sequencing

2022
We identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C>A, p.S1178X) in a sporadic 4-year-old Chinese ...
openaire   +1 more source