Results 71 to 80 of about 13,790,477 (113)

An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice. [PDF]

EBioMedicine
D'Incal CP, Cappuyns E, Paldi F, van der Lei MB, Annear DJ, Alastruey CM, Sokolova D, Elinck E, De Man K, Konings A, Huyghebaert J, Thys S, Pintelon I, Verschuuren M, Calus E, Van Dam D, De Deyn PP, Nguyen S, Yalcin B, Horii T, Hatada I, Mateiu L, Cavalli G, Pasciuto E, Berghe WV, Kooy RF.   +25 more
europepmc   +1 more source

ADNP Functions During Early Brain Development and Their Relevance to ASD and ADNP Syndrome. [PDF]

Int J Mol Sci
Liu X, Watanabe S, Coleman S, Shih V, Telfer WR, Kansagra VD, Drak L, Pesaladinne LR, Kim D, Sudan S, Singhal A, Toyo-Oka K.   +11 more
europepmc   +1 more source

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+). [PDF]

Eur J Hum Genet
Rivera-Munoz EA, Zhao XE, Rosenfeld JA, Luna PN, Shaw CA, Posey JE, Scott DA.   +6 more
europepmc   +1 more source

Monogenic defects in Russian children with autism spectrum disorders. [PDF]

World J Clin Pediatr
Suspitsin EN, Malysheva KS, Laptiev SA, Sharonova OS, Abuzova AS, Kuznitsyna AA, Melashenko TV, Efremova OV, Korzun PR, Binnatova JO, Gorgul YA, Syomina MV, Imyanitov EN.   +12 more
europepmc   +1 more source

La Floride : Suivant les Nouvelles Observations de Messrs. de l'Academie des Sciences, etc. : Augmentées de Nouveau.

Prime meridian: Ferro.; Relief shown pictorially.; Shows locations of many Indian tribes and their ...
Aa, Pieter van der, 1659-1733.
core  

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome. [PDF]

Hum Genet
McConkey H, van der Laan L, Ghosh S, Kleinendorst L, Levy MA, Rzasa J, van Hagen JM, Waisfisz Q, Schulz HL, Heller C, Huhn K, Obermaier CD, Platzer K, Jamra RA, Marinakis N, Veltra D, Kosma K, Sofocleous C, Henneman P, Sadikovic B, van Haelst MM.   +20 more
europepmc   +1 more source

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort. [PDF]

Hum Genet
Szalai R, Till A, Galimurka K, Banfai Z, Zsigmond A, Hadzsiev K.   +5 more
europepmc   +1 more source

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort. [PDF]

Mol Autism
Viora-Dupont E, Delanne J, Garde A, Nambot S, Colin E, Bournez M, Fauconnier-Fatus C, Racine C, Simao De Souza C, Bernard C, Maurer A, Espitalier A, Binquet C, Bouctot M, Humbert ML, Briffaut AS, Darmency V, Plumet P, Cotinaud-Ricou A, Relin N, Callier P, Mosca-Boidron AL, Marle N, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Vitobello A, Philippe C, Duffourd Y, Bruel AL, Thauvin-Robinet C, Faivre L.   +31 more
europepmc   +1 more source

Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders. [PDF]

Front Mol Biosci
Anisimova P, Filat'eva A, Tarabykin V, Kondakova E.   +3 more
europepmc   +1 more source

A novel <i>ZNF699</i> mutation in a patient with DEGCAGS syndrome and severe B cell depletion. [PDF]

J Hum Immun
Giardino G, Romano R, Squeo GM, Toriello E, De Rosa A, Ammendola A, Gemma G, Rzasa J, Kerkhof J, di Venere E, Cantelli M, Cirillo E, Nigro V, Sadikovic B, Pignata C, Merla G.   +15 more
europepmc   +1 more source