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European Journal of Medical Genetics
|
December 31, 2017
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms
M H D Schoenaker, N J H Van Os, M Van der Flier, et al.
European Journal of Medical Genetics
|
August 5, 2021
Considerations for radiotherapy in Bloom Syndrome: A case series
M H D Schoenaker, S Takada, M van Deuren, et al.
Neurology
|
July 26, 2006
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia
J A P Hiel, B G M van Engelen, C M R Weemaes, et al.
Genes and Immunity
|
March 11, 2011
Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide
H Ijspeert, A C Lankester, J M van den Berg, et al.
Neurology
|
June 19, 2009
Clinical spectrum of ataxia-telangiectasia in adulthood
M M M Verhagen, W F Abdo, M A A P Willemsen, et al.
Journal of Medical Genetics
|
September 26, 2007
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
M M Hagleitner, A Lankester, P Maraschio, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 16) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 16 results.
European Journal of Medical Genetics
|
December 31, 2017
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms
M H D Schoenaker, N J H Van Os, M Van der Flier, et al.
European Journal of Medical Genetics
|
August 5, 2021
Considerations for radiotherapy in Bloom Syndrome: A case series
M H D Schoenaker, S Takada, M van Deuren, et al.
Neurology
|
July 26, 2006
Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia
J A P Hiel, B G M van Engelen, C M R Weemaes, et al.
Genes and Immunity
|
March 11, 2011
Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide
H Ijspeert, A C Lankester, J M van den Berg, et al.
Neurology
|
June 19, 2009
Clinical spectrum of ataxia-telangiectasia in adulthood
M M M Verhagen, W F Abdo, M A A P Willemsen, et al.
Journal of Medical Genetics
|
September 26, 2007
Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
M M Hagleitner, A Lankester, P Maraschio, et al.
Page
of 2