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Basel‐Vanagaite, L.
117
results:
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Online (117)
Mediatypes
Articles (Online) (78)
OpenAccess-fulltext (39)
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1
OP08.01: Cytogenetic analysis in fetuses with late onset ab..:
Bardin, R.
;
Hadar, E.
;
Meizner, I.
...
Ultrasound in Obstetrics & Gynecology. 50 (2017) S1 - p. 71-71 , 2017
Link:
https://doi.org/10.1002/..
?
2
Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 cause..:
Weisz Hubshman, M.
;
Basel‐Vanagaite, L.
;
Krauss, A.
...
Clinical Genetics. 91 (2017) 6 - p. 902-907 , 2017
Link:
https://doi.org/10.1111/..
?
3
Chromosomal microarray analysis in fetuses with aberrant ri..:
Maya, I.
;
Kahana, S.
;
Yeshaya, J.
...
Ultrasound in Obstetrics & Gynecology. 49 (2017) 3 - p. 337-341 , 2017
Link:
https://doi.org/10.1002/..
?
4
The impact of the national population carrier screening pro..:
Aharoni, S.
;
Nevo, Y.
;
Orenstein, N.
...
Neuromuscular Disorders. 27 (2017) - p. S137 , 2017
Link:
https://doi.org/10.1016/..
?
5
Cut-off value of nuchal translucency as indication for chro..:
Maya, I.
;
Yacobson, S.
;
Kahana, S.
...
Ultrasound in Obstetrics & Gynecology. 50 (2017) 3 - p. 332-335 , 2017
Link:
https://doi.org/10.1002/..
?
6
A novel heterozygous IGF-1 receptor mutation associated wit..:
Solomon-Zemler, R
;
Basel-Vanagaite, L
;
Steier, D
...
Endocrine Connections. 6 (2017) 6 - p. 395-403 , 2017
Link:
https://doi.org/10.1530/..
?
7
Recognition of the Cornelia de Lange syndrome phenotype wit..:
Basel-Vanagaite, L.
;
Wolf, L.
;
Orin, M.
...
Clinical Genetics. 89 (2016) 5 - p. 557-563 , 2016
Link:
https://doi.org/10.1111/..
?
8
A novel mutation in the GAN gene causes an intermediate for..:
Abu-Rashid, M.
;
Mahajnah, M.
;
Jaber, L.
...
European Journal of Paediatric Neurology. 17 (2013) 3 - p. 259-264 , 2013
Link:
https://doi.org/10.1016/..
?
9
A novel splice-site mutation in theAAGABgene segregates wit..:
Eytan, O.
;
Sarig, O.
;
Israeli, S.
...
Clinical and Experimental Dermatology. 39 (2013) 2 - p. 182-186 , 2013
Link:
https://doi.org/10.1111/..
?
10
High frequency of autosomal‐recessive DFNB59 hearing loss i..:
Borck, G
;
Rainshtein, L
;
Hellman‐Aharony, S
...
Clinical Genetics. 82 (2011) 3 - p. 271-276 , 2011
Link:
https://doi.org/10.1111/..
?
11
Loss-of-function mutations in ATP6V0A2 impair vesicular tra..:
Hucthagowder, V.
;
Morava, E.
;
Kornak, U.
...
Human Molecular Genetics. 18 (2009) 12 - p. 2149-2165 , 2009
Link:
https://doi.org/10.1093/..
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12
EM.P.2.04 Unraveling the genetic complexity of alpha-dystro..:
Manzini, M.C.
;
Gleason, D.
;
Chang, B.S.
...
Neuromuscular Disorders. 19 (2009) 8-9 - p. 552-553 , 2009
Link:
https://doi.org/10.1016/..
?
13
Cobblestone-like brain dysgenesis and altered glycosylation..:
Van Maldergem, L.
;
Yuksel-Apak, M.
;
Kayserili, H.
...
Neurology. 71 (2008) 20 - p. 1602-1608 , 2008
Link:
https://doi.org/10.1212/..
?
14
Autosomal recessive ichthyosis with hypotrichosis syndrome:..:
Avrahami, L
;
Maas, S
;
Pasmanik-Chor, M
...
Clinical Genetics. 74 (2008) 1 - p. 47-53 , 2008
Link:
https://doi.org/10.1111/..
?
15
Rapid Development of Post-radiotherapy Sarcoma and Breast C..:
Salmon, A.
;
Amikam, D.
;
Sodha, N.
...
Clinical Oncology. 19 (2007) 7 - p. 490-493 , 2007
Link:
https://doi.org/10.1016/..
1-15