Results 41 to 50 of about 151 (72)

De novo variants are a common cause of genetic hearing loss. [PDF]

Genet Med, 2022
Klimara MJ, Nishimura C, Wang D, Kolbe DL, Schaefer AM, Walls WD, Frees KL, Smith RJH, Azaiez H.   +8 more
europepmc   +1 more source

Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions. [PDF]

Invest Ophthalmol Vis Sci, 2022
Willems M, Wells CF, Coubes C, Pequignot M, Kuony A, Michon F.   +5 more
europepmc   +1 more source

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach. [PDF]

Front Immunol
Rozevska M, Daila Neiburga-Vigante K, Nartisa I, Lucane Z, Ozola L, Bardina L, Jaunalksne I, Gerula N, Krike P, Taurina G, Nokalna-Spale I, Micule I, Vilne B, Kisand K, Pajusalu S, Gailite L, Rots D, Kurjane N.   +17 more
europepmc   +1 more source

Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. [PDF]

Am J Med Genet A, 2020
Bojanek EK, Mosconi MW, Guter S, Betancur C, Macmillan C, Cook EH.   +5 more
europepmc   +1 more source

Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. [PDF]

Brain Commun, 2021
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT, Genomics England Research Consortium, Webster AR, Studer M, Yu-Wai-Man P.   +40 more
europepmc   +1 more source

Precision gene diagnosis and treatment of epilepsy: a new frontier in medical care. [PDF]

Acta Epileptol
Mu J, Jiang W, Tang Y, Zhou D, Liao W.
europepmc   +1 more source

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis. [PDF]

BMC Neurol
Tafakhori A, Sarvestani Z, Kariminejad A, Tajsharghi H, Seo GH, Ryu SW, Heydari Havadaragh S.   +6 more
europepmc   +1 more source

Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo. [PDF]

Commun Biol
Bertacchi M, Theiß S, Ahmed A, Eibl M, Loubat A, Maharaux G, Phromkrasae W, Chakrabandhu K, Camgöz A, Antonaci M, Schaaf CP, Studer M, Laugsch M.   +12 more
europepmc   +1 more source

Genetic etiology and pregnancy outcomes of fetuses with central nervous system anomalies. [PDF]

Arch Gynecol Obstet
Tao H, Wu J, Han Y, Zhang B, Zhai J.
europepmc   +1 more source

The NR2F1-Related 5q14.3-q21.1 deletion causing periventricular heterotopia with cerebral visual impairment: a longitudinal case report and genotype-phenotype analysis. [PDF]

Front Genet
St Clair Tracy H, Dutton GN, Hall HN, Blaikie A.   +3 more
europepmc   +1 more source