12 results for author:"Straussberg R." in Literature citations
Results Customize
› Repeat search in UniProtKB (10)
| Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. Maydan G., Noyman I., Har-Zahav A., Neriah Z.B., Pasmanik-Chor M., Yeheskel A., Albin-Kaplanski A., Maya I., Magal N., Birk E. et al. J. Med. Genet. 48:383-389(2011) · UniProtKB (1) · Mapped (1) |
| Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Kaufmann R., Straussberg R., Mandel H., Fattal-Valevski A., Ben-Zeev B., Naamati A., Shaag A., Zenvirt S., Konen O., Mimouni-Bloch A. et al. Am. J. Hum. Genet. 87:667-670(2010) · UniProtKB (1) · Mapped (2) |
| A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Mochida G.H., Mahajnah M., Hill A.D., Basel-Vanagaite L., Gleason D., Hill R.S., Bodell A., Crosier M., Straussberg R., Walsh C.A. Am. J. Hum. Genet. 85:897-902(2009) · UniProtKB (1) · Mapped (21) |
| Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs. Goldberg-Stern H., Halevi A., Marom D., Straussberg R., Mimouni-Bloch A. Pediatr. Neurol. 41:297-300(2009) · Mapped (10) |
| Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+? Sijben A.E., Sithinamsuwan P., Radhakrishnan A., Badawy R.A., Dibbens L., Mazarib A., Lev D., Lerman-Sagie T., Straussberg R., Berkovic S.F. et al. Epilepsia 50:953-956(2009) · Mapped (10) |
| A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Bassuk A.G., Wallace R.H., Buhr A., Buller A.R., Afawi Z., Shimojo M., Miyata S., Chen S., Gonzalez-Alegre P., Griesbach H.L. et al. Am. J. Hum. Genet. 83:572-581(2008) · UniProtKB (1) · Mapped (12) |
| A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function. Lasry I., Berman B., Straussberg R., Sofer Y., Bessler H., Sharkia M., Glaser F., Jansen G., Drori S., Assaraf Y.G. Blood 112:2055-2061(2008) · UniProtKB (1) |
| Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Basel-Vanagaite L., Muncher L., Straussberg R., Pasmanik-Chor M., Yahav M., Rainshtein L., Walsh C.A., Magal N., Taub E., Drasinover V. et al. |
| Expanding the phenotypic spectrum of L1CAM-associated disease. Basel-Vanagaite L., Straussberg R., Friez M.J., Inbar D., Korenreich L., Shohat M., Schwartz C.E. Clin. Genet. 69:414-419(2006) · UniProtKB (1) |
| The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. Basel-Vanagaite L., Attia R., Yahav M., Ferland R.J., Anteki L., Walsh C.A., Olender T., Straussberg R., Magal N., Taub E. et al. J. Med. Genet. 43:203-210(2006) · UniProtKB (2) · Mapped (2) |
| G protein-coupled receptor-dependent development of human frontal cortex. Piao X., Hill R.S., Bodell A., Chang B.S., Basel-Vanagaite L., Straussberg R., Dobyns W.B., Qasrawi B., Winter R.M., Innes A.M. et al. |
| Seventeen novel mutations that cause profound biotinidase deficiency. Wolf B., Jensen K., Huner G., Demirkol M., Baykal T., Divry P., Rolland M.O., Perez-Cerda C., Ugarte M., Straussberg R. et al. Mol. Genet. Metab. 77:108-111(2002) · Mapped (4) |