Results 81 to 90 of about 557 (164)

Identification of novel variants in the ARID1B gene causing Coffin-Siris syndrome. [PDF]

Eur J Pediatr
Ge Y, Zhang XY, Han X, Zhang JT, Ma WM, Yang HC, Cao HQ, Lan WY, Dong W, Hu Y, Yang YL, Sun ZS, Shen M.   +12 more
europepmc   +1 more source

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report. [PDF]

BMC Med Genomics
Ibrahim AA, Aamer W, Aliyev E, Al-Maraghi A, Elhag SF, Abdi M, Syed N, Palaniswamy S, Akil ASA, Kamal M, Fakhro KA.   +10 more
europepmc   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. [PDF]

Hum Genomics
Zhuang J, Huang N, Wang J, Chen C.
europepmc   +1 more source

Vestibular System and Hearing Involvement in Patients with Turner Syndrome. [PDF]

J Clin Med
Díaz Sánchez V, España Dos Santos H, Cabrera Pérez L, Marcos Alonso S, Benito González F, Sánchez Gómez H, Alonso San Eloy AB, Rivas MC, Batuecas Caletrio Á.   +8 more
europepmc   +1 more source

Dmxl1 is required for survival in the mouse to organogenesis stages of development. [PDF]

Differentiation
Vontell AM, Willeke L, Iyyanar PPR, Stottmann RW.   +3 more
europepmc   +1 more source

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review. [PDF]

Front Endocrinol (Lausanne)
Nowak-Ciołek M, Ciołek M, Tomaszewska A, Hildebrandt F, Kitzler T, Deutsch K, Lemberg K, Shril S, Szczepańska M, Zachurzok A.   +9 more
europepmc   +1 more source

Genetic Variants in Rare Ophthalmological Syndromes: Novel <i>COL11A1</i> Splice Site Variant in a Brazilian Family with Stickler Syndrome Type 2. [PDF]

J Curr Ophthalmol
Mansilla PF, Lima VL, Salomão GHA, Christofolini DM.   +3 more
europepmc   +1 more source

Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients. [PDF]

Mol Genet Genomic Med
Ou S, Zhang S, Yang Q, Zhang Q, Zhou X, Zhang Q, Rong X, Qi N, Qian J, Xi B, Lin R, Wei S, Su J, Qin Z, Luo J.   +14 more
europepmc   +1 more source

Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants. [PDF]

Transl Psychiatry
Fabre A, Aljabali K, Boisgontier J, Fillon L, Guida L, Saitovitch A, Rio M, Amiel J, Michot C, Dangouloff-Ros V, Cabet S, Cormier-Daire V, Munnich A, Zilbovicius M, Boddaert N.   +14 more
europepmc   +1 more source

Osteogenesis Imperfecta Type II: The Lethal Newborn Form Diagnosed in the Postnatal Period. [PDF]

Cureus
Elhaddadi H, Ayyad A, Messaoudi S, Amrani R.   +3 more
europepmc   +1 more source