Results 101 to 110 of about 2,496 (133)

Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes. [PDF]

J Pediatr
Kobayashi ES, Lotan NS, Schejter YD, Makowski C, Kraus V, Ramchandar N, Meiner V, Thiffault I, Farrow E, Cakici J, Kingsmore S, Wagner M, Rieber N, Bainbridge M.   +13 more
europepmc   +1 more source

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay. [PDF]

EMBO Mol Med
Hough SH, Jhujh SS, Awwad SW, Lewis OE, Lam S, Thomas JC, Mosler T, Bader A, Bartik L, McKee S, Amudhavalli S, Colin E, Damseh N, Clement E, Cacheiro P, Majumdar A, Smedley D, Fluss J, Giannini R, Thiffault I, Zagnoli Vieira G, Belotserkovskaya R, Smerdon SJ, Beli P, Galanty Y, Carnie CJ, Stewart GS, Jackson SP.   +27 more
europepmc   +1 more source

Single-cell transcriptomics in a child with coenzyme Q10 nephropathy: potential of single-cell RNA sequencing in pediatric kidney disease. [PDF]

Pediatr Nephrol
Park PG, Choi S, Ahn YH, Kim SH, Kim C, Kim HJ, Kang HG.   +6 more
europepmc   +1 more source

Advancing the neuroimaging diagnosis and understanding of mitochondrial disorders. [PDF]

Neurotherapeutics
Alves CAPF, Whitehead MT.
europepmc   +1 more source

Phenome-wide association study of monogenic inflammatory bowel disease genes in diverse biobanks identifies population-specific and shared Goldilocks alleles: implications for Precision Medicine. [PDF]

J Crohns Colitis
Bao MM, Kars ME, Zhang D, Gettler K, Rader D, Snapper S, Itan Y, Cho JH.   +7 more
europepmc   +1 more source

GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss. [PDF]

Adv Sci (Weinh)
Cheng H, Wang X, Zhong M, Geng J, Li W, Pei K, Wang J, Wang L, Lu Y, Cheng J, Bu F, Yuan H.   +11 more
europepmc   +1 more source

The Liquid Genioplasty: Different Techniques Compared. [PDF]

Aesthetic Plast Surg
Goisis M, Veronese S, Kasilovska P, Malakhova O, Hirache K, Nicoletti MM, Sbarbati A.   +6 more
europepmc   +1 more source

Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly. [PDF]

Front Neurosci
Haddad L, Hadi E, Leibovitz Z, Lev D, Shalev Y, Gindes L, Lerman-Sagie T.   +6 more
europepmc   +1 more source

Alpaca (<i>Vicugna pacos</i>) Husbandry and Their Welfare. [PDF]

Animals (Basel)
Pilarczyk R, Bąkowska M, Pilarczyk B, Tomza-Marciniak A, Seremak B, Udała J, Matusevičius P, Mišeikienė R.   +7 more
europepmc   +1 more source

A sensitive assay for measuring whole-blood responses to type I IFNs. [PDF]

Proc Natl Acad Sci U S A
Gervais A, Le Floc'h C, Le Voyer T, Bizien L, Bohlen J, Celmeli F, Al Qureshah F, Masson C, Rosain J, Chbihi M, Lévy R, Castagnoli R, Rothenbuhler A, Jouanguy E, Zhang Q, Zhang SY, Béziat V, Bustamante J, Puel A, Bastard P, Casanova JL.   +20 more
europepmc   +1 more source