Results 111 to 120 of about 152,836 (291)
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
, 2009 Il contributo analizza l’incidenza della forma ricetta nella morfologia della poesia burchiellesca e in altri contesti del nostro Rinascimento: l’utilizzo di un linguaggio formulare e una sintassi prevalentemente ripetitiva producono in questi versi un ...
ZACCARELLO, Michelangelo
core +1 more source
Humorous nonsense and multimodality in British and American children's poetry
The European Journal of Humour Research, 2017 Nonsense and humour are two cognitive and linguistic phenomena that frequently overlap. The focus of this article falls on chosen instances of humorous nonsense poetry, targeted at English-speaking children, which contains verbal and visual modes of ...
Elzbieta Chrzanowska-Kluczewska
doaj
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
Some uffish thoughts on the Swedish translations of “Jabberwocky”
The European Journal of Humour Research, 2017 In this article the “translatability” (and/or untranslatability) of nonsense is addressed. For this purpose, five Swedish versions of Lewis Carroll’s nonsense poem “Jabberwocky” from Lewis Carroll’s Through the Looking-Glass (1871) are examined: the ...
Björn Sundmark
doaj
"Fort nonsense," Near Sherman.
, 2019 "Fort nonsense," Near ...
No Author (8173005)
core +1 more source
L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai +5 more
wiley +1 more source
, 2018 In honor of April Fools\u27 Day, some nonsense from Edward Lear (1812-1888)
Milligan, Joan
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source