Results 81 to 90 of about 13,790,477 (113)

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

Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature. [PDF]

Biomedicines
Alegret-García A, Cáceres A, Sevilla-Porras M, Pérez-Jurado LA, González JR.   +4 more
europepmc   +1 more source

Etiological Patterns of Protein-Energy Malnutrition in a Pediatric Clinic in China. [PDF]

Med Sci Monit
Tang M, Wang Y, Yang F, Xiang Y, Wu J.
europepmc   +1 more source

Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang.

Hum Hered
Li Y, Cao C, Luo Y, Sun G, Baoerhan R, Julaiti D, Li J, Shen Y, Maimaiti M.   +8 more
europepmc   +1 more source

Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans. [PDF]

Epigenetics Chromatin
Cecere F, Relator R, Levy M, Verma A, McConkey H, Mele BH, Pignata L, Giaccari C, D'Angelo E, Saha S, Saadat A, Sparago A, Angelini C, Cerrato F, Sadikovic B, Riccio A.   +15 more
europepmc   +1 more source

Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals. [PDF]

Int J Obes (Lond)
Künzel R, Faust H, Bundalian L, Blüher M, Jasaszwili M, Kirstein A, Kobelt A, Körner A, Popp D, Wenzel E, Jamra RA, Lemke JR, Schöneberg T, Stein R, Garten A, Le Duc D.   +15 more
europepmc   +1 more source

Moderate Physical Activity Increases the Expression of ADNP in Rat Brain. [PDF]

Int J Mol Sci
Maugeri G, D'Amico AG, Federico C, Saccone S, D'Agata V, Musumeci G.   +5 more
europepmc   +1 more source

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder. [PDF]

Am J Hum Genet
Pérez Baca MDR, Palomares-Bralo M, Vanhooydonck M, Hamerlinck L, D'haene E, Leimbacher S, Jacobs EZ, De Cock L, D'haenens E, Dheedene A, Malfait Z, Vantomme L, Silva A, Rooney K, Zhao X, Saeidian AH, Owen NM, Santos-Simarro F, Lleuger-Pujol R, García-Miñaúr S, Losantos-García I, Menten B, Gestri G, Ragge N, ZFHX4 consortium, Sadikovic B, Bogaert E, Vleminckx K, Naert T, Syx D, Callewaert B, Vergult S.   +31 more
europepmc   +1 more source