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Search Results - van de Putte, D.E. Fransen
Search Results - van de Putte, D.E. Fransen
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A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene
by
Coebergh, J.A
,
van de Putte, D.E. Fransen
,
Snoeck, I.N
,
Ruivenkamp, C
,
van Haeringen, A
,
Smit, L.M
Published in
European journal of paediatric neurology
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Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
by
Bijlsma, E.K
,
Gijsbers, A.C.J
,
Schuurs-Hoeijmakers, J.H.M
,
van Haeringen, A
,
Fransen van de Putte, D.E
,
Anderlid, B.-M
,
Lundin, J
,
Lapunzina, P
,
Pérez Jurado, L.A
,
Delle Chiaie, B
,
Loeys, B
,
Menten, B
,
Oostra, A
,
Verhelst, H
,
Amor, D.J
,
Bruno, D.L
,
van Essen, A.J
,
Hordijk, R
,
Sikkema-Raddatz, B
,
Verbruggen, K.T
,
Jongmans, M.C.J
,
Pfundt, R
,
Reeser, H.M
,
Breuning, M.H
,
Ruivenkamp, C.A.L
Published in
European journal of medical genetics
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Response to desmopressin in patients with mild hemophilia A caused by the F8 c.1910A>G, p.Asn637Ser mutation
by
Mauser‐Bunschoten, E. P.
,
Fransen van de Putte, D. E.
,
Ploos van Amstel, H. K.
,
Spoor, M.
,
Schutgens, R. E. G.
Published in
Journal of thrombosis and haemostasis
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European Journal Of Medical Genetics
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European Journal Of Paediatric Neurology
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Journal Of Thrombosis And Haemostasis
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Subjects
Humans
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Life Sciences & Biomedicine
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Science & Technology
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Child, Preschool
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Chromosome Deletion
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Male
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Abnormalities, Multiple
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Adolescent
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Adult
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Asparagine - Genetics
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Ataxia
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Autistic Disorder - Genetics
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Cardiovascular System & Cardiology
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Child
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Chromosome 16P11.2
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Chromosome Disorders - Diagnosis
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Chromosome Disorders - Genetics
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Chromosomes, Human, Pair 13 - Genetics
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Chromosomes, Human, Pair 16
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Clinical Neurology
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