Results 71 to 80 of about 13,790,427 (112)

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

Disruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome

Rizzuti L, Vitriolo A, Mariana PdA, Pereira MF, Meert L, Dossena F, Prazzoli F, Dekker M, Dekkers DH, Demmers J, van IJcken WF, Soriani C, Gabriele M, Mohiuddin M, Van Dijck A, Finazzi V, Trattaro S, Pallotta D, Tenderini E, Vulto-van Silfhout AT, de Vries BBA, Eichler EE, Pearson CE, Kooy RF, Poot R, Testa G.   +25 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

Clinical and genetic findings in autism spectrum disorders analyzed using exome sequencing. [PDF]

Front Psychiatry
Blázquez A, Rodriguez-Revenga L, Alvarez-Mora MI, Calvo R.   +3 more
europepmc   +1 more source

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature. [PDF]

Eur J Hum Genet
Houdayer C, Rooney K, van der Laan L, Bris C, Alders M, Bahr A, Barcia G, Battault C, Begemann A, Bonneau D, Bonnevalle A, Boughalem A, Bourges A, Bournez M, Bruel AL, Buhas D, Carallis F, Cogné B, Cormier-Daire V, Delanne J, Demaret T, Denommé-Pichon AS, Désir J, Dubourg C, Fradin M, Geneviève D, Goel H, Goldenberg A, Gripp KW, Guichet A, Guimier A, Jacquinet A, Keren B, Legoff L, Levy MA, McConkey H, Mendelsohn BA, Mignot C, Milon V, Nizon M, Oneda B, Pasquier L, Patat O, Philippe C, Procaccio V, Procopio R, Prouteau C, Rambaud T, Rauch A, Relator R, Rondeau S, Santen GWE, Schleit J, Sorlin A, Steindl K, Tedder M, Tessarech M, Mau-Them FT, Trost D, Van der Sluijs PJ, Vincent M, Whalen S, Thauvin-Robinet C, Isidor B, Sadikovic B, Vitobello A, Colin E.   +66 more
europepmc   +1 more source