Basel-Salmon or Basel-Vanagaite or Lina Vanagaite or Lina Basel Salmon
Basel-Salmon or Basel-Vanagaite or Lina Vanagaite or Lina Basel Salmon
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Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
K Savitsky, A Bar-Shira, S Gilad, G Rotman, Y Ziv, L Vanagaite, DA Tagle, ...
Science 268 (5218), 1749-1753, 1995
30221995
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ...
Nature genetics 38 (12), 1397-1405, 2006
5672006
G protein-coupled receptor-dependent development of human frontal cortex
X Piao, RS Hill, A Bodell, BS Chang, L Basel-Vanagaite, R Straussberg, ...
Science 303 (5666), 2033-2036, 2004
4572004
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
U Kornak, E Reynders, A Dimopoulou, J Van Reeuwijk, B Fischer, ...
Nature genetics 40 (1), 32-34, 2008
3282008
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
L Claes, B Ceulemans, D Audenaert, K Smets, A Löfgren, J Del‐Favero, ...
Human mutation 21 (6), 615-621, 2003
2222003
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
BS Budde, Y Namavar, PG Barth, BT Poll-The, G Nürnberg, C Becker, ...
Nature genetics 40 (9), 1113-1118, 2008
1962008
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
H Toledano-Alhadef, L Basel-Vanagaite, N Magal, B Davidov, S Ehrlich, ...
The American Journal of Human Genetics 69 (2), 351-360, 2001
1962001
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
L Basel-Vanagaite, R Attia, M Yahav, RJ Ferland, L Anteki, CA Walsh, ...
Journal of medical genetics 43 (3), 203-210, 2006
1902006
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
Y Namavar, PG Barth, PR Kasher, F Van Ruissen, K Brockmann, ...
Brain 134 (1), 143-156, 2011
1752011
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase
L Basel-Vanagaite, R Attia, A Ishida-Yamamoto, L Rainshtein, DB Amitai, ...
The American Journal of Human Genetics 80 (3), 467-477, 2007
1742007
Identifying facial phenotypes of genetic disorders using deep learning
Y Gurovich, Y Hanani, O Bar, G Nadav, N Fleischer, D Gelbman, ...
Nature medicine 25 (1), 60-64, 2019
1642019
Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II
MMP Hermans, D Leenen, MA Kroos, CE Beesley, AT Van der Ploeg, ...
Human mutation 23 (1), 47-56, 2004
1622004
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development
M Peyrard-Janvid, EJ Leslie, YA Kousa, TL Smith, M Dunnwald, ...
The American Journal of Human Genetics 94 (1), 23-32, 2014
1392014
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly
GH Mochida, M Mahajnah, AD Hill, L Basel-Vanagaite, D Gleason, ...
The American Journal of Human Genetics 85 (6), 897-902, 2009
1342009
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis
L Basel‐Vanagaite, L Muncher, R Straussberg, M Pasmanik‐Chor, ...
Annals of Neurology: Official Journal of the American Neurological …, 2006
1342006
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
G Maydan, I Noyman, A Har-Zahav, ZB Neriah, M Pasmanik-Chor, ...
Journal of medical genetics 48 (6), 383-389, 2011
1332011
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16
BS Chang, X Piao, A Bodell, L Basel‐Vanagaite, R Straussberg, ...
Annals of Neurology: Official Journal of the American Neurological …, 2003
1292003
Ataxia-telangiectasia: founder effect among North African Jews
S Gilad, A Bar-Shira, R Harnik, D Shkedy, Y Ziv, R Khosravi, K Brown, ...
Human molecular genetics 5 (12), 2033-2037, 1996
1231996
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
V Hucthagowder, E Morava, U Kornak, DJ Lefeber, B Fischer, ...
Human molecular genetics 18 (12), 2149-2165, 2009
1202009
Mutations in PIK3R1 cause SHORT syndrome
DA Dyment, AC Smith, D Alcantara, JA Schwartzentruber, ...
The American Journal of Human Genetics 93 (1), 158-166, 2013
1172013
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Makaleler 1–20