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Search Results - GEURDS, M. P. A
Search Results - GEURDS, M. P. A
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Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofo...
by
Hol, Frans A
,
van der Put, Nathalie MJ
,
Geurds, Monique PA
,
Heil, Sandra G
,
Trijbels, Frans JM
,
Hamel, Ben CJ
,
Mariman, Edwin CM
,
Blom, Henk J
Published in
Clinical genetics
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PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida
by
Hol, F A
,
Geurds, M P
,
Chatkupt, S
,
Shugart, Y Y
,
Balling, R
,
Schrander-Stumpel, C T
,
Johnson, W G
,
Hamel, B C
,
Mariman, E C
Published in
Journal of medical genetics
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A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome
by
Hol, F A
,
Hamel, B C
,
Geurds, M P
,
Mullaart, R A
,
Barr, F G
,
Macina, R A
,
Mariman, E C
Published in
Journal of medical genetics
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Absence of linkage between familial neural tube defects and PAX3 gene
by
Chatkupt, S
,
Hol, F A
,
Shugart, Y Y
,
Geurds, M P
,
Stenroos, E S
,
Koenigsberger, M R
,
Hamel, B C
,
Johnson, W G
,
Mariman, E C
Published in
Journal of medical genetics
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Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family
by
HOL, F. A
,
HAMEL, B. C. J
,
GEURDS, M. P. A
,
HANSMANN, I
,
NABBEN, F. A. E
,
DANIËLS, O
,
MARIMAN, E. C. M
Published in
Human genetics
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Improving the polymorphism content of the 3′ UTR of the human IGF2R gene
by
Hol, F.A.
,
Geurds, M.P.A.
,
Hamel, B.C.J.
,
Mariman, E.C.M.
Published in
Human molecular genetics
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Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family
by
HOL, F. A
,
GEURDS, M. P. A
,
JENSSON, O
,
HAMEL, B. C. J
,
MOORE, G. E
,
NEWTON, R
,
MARIMAN, E. C. M
Published in
Human genetics
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Production of native creatine kinase B in insect cells using a baculovirus expression vector
by
de Kok, Y J
,
Geurds, M P
,
Sistermans, E A
,
Usmany, M
,
Vlak, J M
,
Wieringa, B
Published in
Molecular and cellular biochemistry
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Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)
by
Hol, F A
,
Geurds, M P
,
Cremers, C W
,
Hamel, B C
,
Mariman, E C
Published in
Human mutation
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Journal Of Medical Genetics
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Amino Acid Sequence
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Dna-Binding Proteins - Genetics
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Malformations Of The Nervous System
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Man
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Paired Box Transcription Factors
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