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Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. [electronic resource] by
- Sancak, Ozgur
- Nellist, Mark
- Goedbloed, Miriam
- Elfferich, Peter
- Wouters, Cokkie
- Maat-Kievit, Anneke
- Zonnenberg, Bernard
- Verhoef, Senno
- Halley, Dicky
- van den Ouweland, Ans
Producer: 20050818
In:
European journal of human genetics : EJHG vol. 13
Availability: No items available.
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Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. [electronic resource] by
- Nellist, Mark
- Sancak, Ozgür
- Goedbloed, Miriam
- Adriaans, Alwin
- Wessels, Marja
- Maat-Kievit, Anneke
- Baars, Marieke
- Dommering, Charlotte
- van den Ouweland, Ans
- Halley, Dicky
Producer: 20080414
In:
BMC medical genetics vol. 9
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Reconstitution of the costunolide biosynthetic pathway in yeast and Nicotiana benthamiana. [electronic resource] by
- Liu, Qing
- Majdi, Mohammad
- Cankar, Katarina
- Goedbloed, Miriam
- Charnikhova, Tatsiana
- Verstappen, Francel W A
- de Vos, Ric C H
- Beekwilder, Jules
- van der Krol, Sander
- Bouwmeester, Harro J
Producer: 20120215
In:
PloS one vol. 6
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Inferring continental ancestry of argentineans from Autosomal, Y-chromosomal and mitochondrial DNA. [electronic resource] by
- Corach, Daniel
- Lao, Oscar
- Bobillo, Cecilia
- van Der Gaag, Kristiaan
- Zuniga, Sofia
- Vermeulen, Mark
- van Duijn, Kate
- Goedbloed, Miriam
- Vallone, Peter M
- Parson, Walther
- de Knijff, Peter
- Kayser, Manfred
Producer: 20100217
In:
Annals of human genetics vol. 74
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Comprehensive mutation analysis of 17 Y-chromosomal short tandem repeat polymorphisms included in the AmpFlSTR Yfiler PCR amplification kit. [electronic resource] by
- Goedbloed, Miriam
- Vermeulen, Mark
- Fang, Rixun N
- Lembring, Maria
- Wollstein, Andreas
- Ballantyne, Kaye
- Lao, Oscar
- Brauer, Silke
- Krüger, Carmen
- Roewer, Lutz
- Lessig, Rüdiger
- Ploski, Rafal
- Dobosz, Tadeusz
- Henke, Lotte
- Henke, Jürgen
- Furtado, Manohar R
- Kayser, Manfred
Producer: 20100118
In:
International journal of legal medicine vol. 123
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Missense mutations to the TSC1 gene cause tuberous sclerosis complex. [electronic resource] by
- Nellist, Mark
- van den Heuvel, Diana
- Schluep, Diane
- Exalto, Carla
- Goedbloed, Miriam
- Maat-Kievit, Anneke
- van Essen, Ton
- van Spaendonck-Zwarts, Karin
- Jansen, Floor
- Helderman, Paula
- Bartalini, Gabriella
- Vierimaa, Outi
- Penttinen, Maila
- van den Ende, Jenneke
- van den Ouweland, Ans
- Halley, Dicky
Producer: 20090423
In:
European journal of human genetics : EJHG vol. 17
Availability: No items available.
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Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. [electronic resource] by
- Ballantyne, Kaye N
- Goedbloed, Miriam
- Fang, Rixun
- Schaap, Onno
- Lao, Oscar
- Wollstein, Andreas
- Choi, Ying
- van Duijn, Kate
- Vermeulen, Mark
- Brauer, Silke
- Decorte, Ronny
- Poetsch, Micaela
- von Wurmb-Schwark, Nicole
- de Knijff, Peter
- Labuda, Damian
- Vézina, Hélène
- Knoblauch, Hans
- Lessig, Rüdiger
- Roewer, Lutz
- Ploski, Rafal
- Dobosz, Tadeusz
- Henke, Lotte
- Henke, Jürgen
- Furtado, Manohar R
- Kayser, Manfred
Producer: 20101007
In:
American journal of human genetics vol. 87
Availability: No items available.
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Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. [electronic resource] by
- Jansen, An C
- Sancak, Ozgur
- D'Agostino, Maria Daniela
- Badhwar, Amanpreet
- Roberts, Penelope
- Gobbi, Gabriella
- Wilkinson, Ralph
- Melanson, Denis
- Tampieri, Donatella
- Koenekoop, Robert
- Gans, Mark
- Maat-Kievit, Anneke
- Goedbloed, Miriam
- van den Ouweland, Ans M W
- Nellist, Mark
- Pandolfo, Massimo
- McQueen, Mary
- Sims, Katherine
- Thiele, Elisabeth A
- Dubeau, François
- Andermann, Frederick
- Kwiatkowski, David J
- Halley, Dicky J J
- Andermann, Eva
Producer: 20070118
In:
Annals of neurology vol. 60
Availability: No items available.
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