Results 171 to 180 of about 18,812 (235)

MRE11 suppresses germline mutagenesis at meiotic double-strand breaks in mice. [PDF]

Genes Dev
Lukaszewicz A, Wilson TE, Kim S, Keeney S, Jasin M.   +4 more
europepmc   +1 more source

Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome. [PDF]

Clin Genet
van Oirsouw ASE, Hsieh TC, Koetsier M, Alali A, Albuainain F, Bacchelli E, Barakat TS, Capri Y, Chantot-Bastaraud S, Capra V, Carere DA, Clement E, Elkhateeb N, Franchi M, Li JM, Matthews N, McNiven V, Mehta SG, Nakamura M, Phornphutkul C, Revencu N, Scala M, Shallow N, Stefanich J, Viggiano M, Visconti P, Walker S, Zara F, Alders M, Koeleman BPC, Oegema R.   +30 more
europepmc   +1 more source

<i>RFX3</i> Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome. [PDF]

Int J Mol Sci
Ceraolo G, Spoto G, Trivisano M, Federico C, Vinci M, Calì F, Treccarichi S, Musumeci A, Di Rosa G, Specchio N, Nicotera AG.   +10 more
europepmc   +1 more source

From a developmental atlas to maps of disease origin. [PDF]

Clin Transl Med
Pan J, Lin Z, Feng J, Zhang G, Fu Z, Huang H, Ding G.   +6 more
europepmc   +1 more source

A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Minale EMP, Martone S, Criscuolo C, Marra R, Lasorsa VA, Ruggiero R, Suero T, Capasso M, Andolfo I, Iolascon A, Russo R, Pinelli M.   +11 more
europepmc   +1 more source

Generation of a novel Dysferlin microdeletion knock-in mouse model mimicking muscular dystrophy-like pathology. [PDF]

Sci Rep
Chen YL, Lin WN, Pan PY, Ku WC, Wang P, Yip PK, Tsui KC, Wu YN, Lin YH.   +8 more
europepmc   +1 more source

Prenatal diagnosis and molecular cytogenetic analysis of Xp22.31 microdeletions and microduplications in Chinese populations. [PDF]

BMC Pregnancy Childbirth
Zhuang J, Fu W, Chen Y, Zhang N, Chen C.
europepmc   +1 more source

Interplay between genomic architecture alterations and GDF6 regulation: A candidate mechanism in Nablus mask-like facial syndrome. [PDF]

HGG Adv
Bologa AM, Dimos L, Pavel AG, Stratan M, Elisabeta Bână P, Stambouli D, Butnariuc I, Truică RA, Focşa IO, Plăiașu V, Țuțulan-Cuniță A.   +10 more
europepmc   +1 more source

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review. [PDF]

Front Pediatr
Li M, Wang S, Pan G, Zhang Z, Wang X, Hu J, Wang M, Du M, Wei H, Chen Y.   +9 more
europepmc   +1 more source