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                             18 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis Pariani, Mitchel J.
2009
52 2-3 p. 123-127
5 p.
artikel
2 A 649kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature Hanemaaijer, Nicolien
2009
52 2-3 p. 116-119
4 p.
artikel
3 A 9.3Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb Pollazzon, M.
2009
52 2-3 p. 131-133
3 p.
artikel
4 Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome de Ravel, Thomy J.
2009
52 2-3 p. 120-122
3 p.
artikel
5 A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female van Silfhout, Anneke
2009
52 2-3 p. 157-160
4 p.
artikel
6 Clinical and molecular characterization of two patients with a 6.75Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects Willemsen, Marjolein H.
2009
52 2-3 p. 134-139
6 p.
artikel
7 Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome Van Esch, Hilde
2009
52 2-3 p. 153-156
4 p.
artikel
8 CV2 Editorial Board redaction 2009
52 2-3 p. IFC-
1 p.
artikel
9 Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome de Ravel, Thomy J.L.
2009
52 2-3 p. 145-147
3 p.
artikel
10 Emerging microdeletion and microduplication syndromes; the counseling paradigm van Ravenswaaij-Arts, Conny M.A.
2009
52 2-3 p. 75-76
2 p.
artikel
11 Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals Bijlsma, E.K.
2009
52 2-3 p. 77-87
11 p.
artikel
12 Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome Van der Aa, Nathalie
2009
52 2-3 p. 94-100
7 p.
artikel
13 1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities Tyshchenko, Nataliya
2009
52 2-3 p. 128-130
3 p.
artikel
14 Microduplication 22q11.2: A new chromosomal syndrome Portnoï, Marie-France
2009
52 2-3 p. 88-93
6 p.
artikel
15 Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances Doornbos, Marianne
2009
52 2-3 p. 108-115
8 p.
artikel
16 14q12 Microdeletion syndrome and congenital variant of Rett syndrome Mencarelli, Maria Antonietta
2009
52 2-3 p. 148-152
5 p.
artikel
17 The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height Buysse, Karen
2009
52 2-3 p. 101-107
7 p.
artikel
18 The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature Raas-Rothschild, Annick
2009
52 2-3 p. 140-144
5 p.
artikel
                             18 gevonden resultaten
 
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