Results 121 to 130 of about 4,368 (158)

<i>All-in-one</i> exome sequencing approach for genetic testing of unexplained premature ovarian insufficiency. [PDF]

Hum Reprod Open
Valkna A, Kikas T, Jakovlev Ü, Mõttus O, Dutta A, Erlang K, Punab M, Rull K, Laan M.   +8 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

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly. [PDF]

Clin Genet
Vanden Eynde N, Hérissant L, Landais E, Egloff M, Rio M, Baujat G, Giuliano F, Karmous-Benailly H, Coutton C, Satre V, Vieville G, Kuentz P, Nizon M, Beneteau C, Isidor B, Callier P, Marquet V, Bieth E, Lévy J, Tabet AC, Cartault F, Scheidecker S, Gouronc A, Schalk A, Angélini C, Pennamen P, Rooryck C, Trajkova S, Gagachovska B, Shrom-Model B, Braddock SR, Hillman P, Liu L, Fenger CD, Hammer TB, Schanze I, Zenker M, Doco-Fenzy M, Poirsier C, Jouret G.   +39 more
europepmc   +1 more source

Management of Respiratory Illness in a Pediatric Patient With Chromosome 16p13.3 Microduplication Syndrome and Potential Seizure Risk. [PDF]

Cureus
Lee MA, Smith T, Madejczyk K.
europepmc   +1 more source

Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing. [PDF]

Ann Med Surg (Lond)
Hong S, Han D, Qi M, Huang S, Ren M, Ding L, Huang X, Qiu W, Song J, Huang Y, Li X, Chen H, Wang X, Zou L, Wei Y.   +14 more
europepmc   +1 more source

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications. [PDF]

Medicine (Baltimore)
Xu T, Yue F, Ge Y, Liu R.
europepmc   +1 more source

A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome. [PDF]

BMC Pediatr
Chenzhuo S, Lingling F, Ang W, Hui C, Ruixin W, Bixi Y, Hongmin L, Jie M, Tianyou W.   +8 more
europepmc   +1 more source

Neurodevelopmental and Behavioral Phenotypes in 14q11.2 Microduplication Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Williams JM, Esbit SL, Ho ML, Sidlow R.
europepmc   +1 more source

Prenatal Diagnosis of MSL2-Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication. [PDF]

Clin Genet
Zgheib O, Rio Frio T, Pellegrinelli JM, Gimelli S, Marconi C, Le Mercier D, Rebollo Polo M, Habre C, Fluss J, Ha-Vinh Leuchter R, Abramowicz M, Giannini R, Fokstuen S.   +12 more
europepmc   +1 more source