Results 231 to 240 of about 823,656 (291)

Norwood procedure with left coronary artery reimplantation for hypoplastic left heart syndrome combined with Anomalous left coronary artery from the right pulmonary artery: a case report. [PDF]

Gen Thorac Cardiovasc Surg Cases
Yamazaki Y, Koizumi J, Tsuji T, Saitoh D, Sakoda N, Tabayashi A, Yakuwa K, Masaki N, Saiki H, Kin H.   +9 more
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Effect of tetrabenazine on Stroop interference in Huntington's disease: Protocol. [PDF]

MethodsX
Fekete R.
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Kaempferol and Kaempferin Alleviate MRSA Virulence by Suppressing β-Lactamase and Inflammation. [PDF]

Molecules
Liu J, Wen J, Lu J, Zhou H, Wang G.
europepmc   +1 more source

Negative social ties as emerging risk factors for accelerated aging, inflammation, and multimorbidity. [PDF]

Proc Natl Acad Sci U S A
Lee B, Ciciurkaite G, Peng S, Mitchell C, Perry BL.   +4 more
europepmc   +1 more source

The bidirectional relationship between children's bedtime irregularity & hyperactivity/inattention symptoms: a prospective cohort study. [PDF]

BMC Psychol
Li KHA, Wong ML.
europepmc   +1 more source

Correction to: Balloon pericardiotomy for malignant pericardial effusion: the PMAP trial. [PDF]

Eur Heart J
europepmc   +1 more source

Kin and non-kin cooperation in China

, 2018
openaire   +1 more source