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Basel‐Vanagaite, L.
117  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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