nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A different approach to telomere analysis with ddPRINS in chronic lymphocytic leukemia
|
Palanduz, Sukru |
|
2006 |
49 |
1 |
p. 63-69 7 p. |
artikel |
2 |
A further case of opsismodysplasia with hydrocephalus
|
Ramos, Feliciano J. |
|
2006 |
49 |
1 |
p. 93-100 8 p. |
artikel |
3 |
Another observation with VATER association and a complex IV respiratory chain deficiency
|
Thauvin-Robinet, Christel |
|
2006 |
49 |
1 |
p. 71-77 7 p. |
artikel |
4 |
Call for nomination of members of The International Standing Committee of Human Cytogenetic Nomenclature 2006–2011
|
Tommerup, Niels |
|
2006 |
49 |
1 |
p. 101- 1 p. |
artikel |
5 |
Central precocious puberty in a girl with Williams syndrome: the result of treatment with GnRH analogue
|
Utine, G. Eda |
|
2006 |
49 |
1 |
p. 79-82 4 p. |
artikel |
6 |
Cri du chat syndrome determined by the 5p15.3→pter deletion—diagnostic problems
|
Laczmanska, Izabela |
|
2006 |
49 |
1 |
p. 87-92 6 p. |
artikel |
7 |
CV2 Editorial Board redaction
|
|
|
2006 |
49 |
1 |
p. CO2- 1 p. |
artikel |
8 |
Fibular aplasia with ectrodactyly—broadening the clinical spectrum
|
Gieruszczak-Bialek, D. |
|
2006 |
49 |
1 |
p. 83-86 4 p. |
artikel |
9 |
HLA genes in Southern Tunisians (Ghannouch area) and their Relationship with other Mediterraneans
|
Hajjej, A. |
|
2006 |
49 |
1 |
p. 43-56 14 p. |
artikel |
10 |
HLA non-class II genes may confer type I diabetes susceptibility in a mapuche (Amerindian) affected family
|
Perez-Bravo, Francisco |
|
2006 |
49 |
1 |
p. 37-41 5 p. |
artikel |
11 |
Identification and characterization of a novel variant in the highly conserved catalytic center of Rab11a
|
Uhlig, M. |
|
2006 |
49 |
1 |
p. 29-36 8 p. |
artikel |
12 |
No mutations detected in the INSR gene in a chromosome 19p13 linked migraine pedigree
|
Curtain, Robert |
|
2006 |
49 |
1 |
p. 57-62 6 p. |
artikel |
13 |
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update
|
Philippe, C. |
|
2006 |
49 |
1 |
p. 9-18 10 p. |
artikel |
14 |
The Fragile X premutation: new insights and clinical consequences
|
Van Esch, Hilde |
|
2006 |
49 |
1 |
p. 1-8 8 p. |
artikel |
15 |
Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18
|
de Pater, J.M. |
|
2006 |
49 |
1 |
p. 19-27 9 p. |
artikel |