Results 241 to 250 of about 227,823 (308)

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +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

A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia. [PDF]

Ann Hematol
Chen ZX, Yang LY, Wang LT, Chen BY, Liang JL, Liu LL, Yu XH.   +6 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

Prenatal diagnosis – where do we go from here? [PDF]

Med Genet
Fauth C, Verheyen S.
europepmc   +1 more source

Detection of germline variants in human population chronically exposed to high level natural background radiation in Kerala coast. [PDF]

Genes Environ
Jain V, Saini D, Sabarinathan R, Das B.
europepmc   +1 more source