Results 161 to 170 of about 151,372 (221)

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

, 1999
R.J.E. Jongbloed, A.A.M. Wilde, J.L.M.C. Geelen, P. Doevendans, C. Schaap, I. Van Langen, J. Peter van Tintelen, J.M. Cobben, G.C.M. Beaufort-Krol, J.P.M. Geraedts, H.J.M. Smeets   +10 more
openalex   +1 more source

Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus. [PDF]

Sci Rep
Saud HA, O'Neill PA, Ring BC, Kudoh T.
europepmc   +1 more source

A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3. [PDF]

Front Neurol
Liu H, Dong J, Xie Z, Yu L.
europepmc   +1 more source

A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT syndrome

, 1998
Hiroyuki Yamagishi, Michiko Furutani, Mitsuhiro Kamisago, Yoshiyuki Morikawa, Yoshifumi Kojima, Yoshiaki Hino, Yoshiyuki Furutani, Misa Kimura, Shin‐ichiro Imamura, Atsuyoshi Takao, Kazuo Momma, Rumiko Matsuoka   +11 more
openalex   +1 more source

A de novo missense mutation in PPP2R5D alters dopamine pathways and morphology of iPSC-derived midbrain neurons. [PDF]

Stem Cells
Carter JL, Halmai JANM, Waldo JJ, Vij PA, Anguiano M, Villegas IJ, Du YX, Nolta J, Fink KD.   +8 more
europepmc   +1 more source

Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy

, 1996
Barbara Heß, Sabine Kafert, Uwe Heinisch, David A. Wenger, Joël Zlotogora, Volkmar Gieselmann   +5 more
openalex   +1 more source

Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family [PDF]

, 1998
Kaoru Akimoto, Michiko Furutani, Shinichiro Imamura, Yoshiyuki Furutani, Hiroshi Kasanuki, Atsuyoshi Takao, Kazuo Momma, Rumiko Matsuoka   +7 more
openalex   +1 more source

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4. [PDF]

Front Psychiatry
Al-Hassnan Z, AlDosary M, AlHargan A, AlQudairy H, Almass R, Alahmadi KO, AlShahrani S, AlBakheet A, Almuhaizea MA, Taylor RW, Colak D, Kaya N.   +11 more
europepmc   +1 more source

Identification and characterization of two missense mutations causing factor XIIIA deficiency [PDF]

, 1999
Sasichai Kangsadalampai, Gareth Chelvanayagam, Rohan T. Baker, Karin Tiedemann, Ponnudurai Kuperan, Philip G. Board   +5 more
openalex   +1 more source

A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human <i>GALNS</i> Gene Results in Severe Mucopolysaccharidosis Type IVA. [PDF]

Iran J Pathol
Safavi M, Setoodeh A, Ghoddoosi M.
europepmc   +1 more source