Results 301 to 310 of about 90,161 (348)

A Truncating Variant in the <i>ERCC6</i> Gene With Three Different Phenotypes: Significant Effects of Modifier Genes. [PDF]

Genet Res (Camb)
Khorrami M, Khorram E, Tabatabaiefar MA, Yaghini O, Iravani O, Kheirollahi A, Kheirollahi M, Yazdani V, Pakbaz M.   +8 more
europepmc   +1 more source

7p21.1 Microdeletion Encompassing the ACTB Gene in a Japanese Child: Longitudinal Clinical and Neuroimaging Findings. [PDF]

Cureus
Yokoyama K, Mamada M.
europepmc   +1 more source

Homozygous Deletion of the Epigenetic Regulator <i>PHF20</i> in Individuals With Neurodevelopmental Disorder. [PDF]

Hum Mutat
Dagan SY, Xuan H, Rips J, Paz-Ebstein E, Baer T, Gross S, Frumkin A, Shi X, Harel T.   +8 more
europepmc   +1 more source

Congenital Syngnathia With Holoprosencephaly: A Case Report of a Fatal Presentation in a Resource-Limited Setting. [PDF]

Clin Case Rep
Haile AM, Mengistie BT, Tamiru TY, Mengistie CT, Abebe DG, Haile BM.   +5 more
europepmc   +1 more source

Modeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity

Gianmarco Pallavicini, Amanda Moccia, Giorgia Iegiani, Roberta Parolisi, Emily Peirent, Gaia Berto, Martina Lorenzati, Rami Yair Tshuva, Alessia Ferraro, Fiorella Balzac, Emilia Turco, Shachi Salvi, Hedvig F Myklebust, Sophia Y. Wang, Julia C. Eisenberg, Maushmi Chitale, Navjit S Girgla, Enrica Boda, Orly Reiner, Annalisa Buffo, Ferdinando Di Cunto, Stephanie Bielas   +21 more
openalex   +1 more source

Further evidence of <i>RNU4ATAC</i> variants causing Joubert syndrome with skeletal involvement. [PDF]

J Med Genet
D'Abrusco F, Gana S, Alfei E, Scarano E, Nicita F, Bertini ES, Digilio MC, Zanni G, Barbuti D, Carlicchi E, Pichiecchio A, D'Arrigo S, Serpieri V, Valente EM.   +13 more
europepmc   +1 more source

<i>DEGS1</i>-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of Literature. [PDF]

Neurol Genet
Grinberg M, Dale B, Ramachandrannair R, Tarnopolsky M, Whitney R, Ejaz R.   +5 more
europepmc   +1 more source

Correction for Lin et al., BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. [PDF]

Proc Natl Acad Sci U S A
europepmc   +1 more source