| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome
|
Corona-Rivera, J. Román
|
|
2009
|
52 |
4 |
p. 242-246
5 p.
|
artikel
|
| 2 |
A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia
|
Ouertani, Ines
|
|
2009
|
52 |
4 |
p. 256-259
4 p.
|
artikel
|
| 3 |
A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay
|
Haldeman-Englert, Chad R.
|
|
2009
|
52 |
4 |
p. 265-268
4 p.
|
artikel
|
| 4 |
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss
|
Feldmann, Delphine
|
|
2009
|
52 |
4 |
p. 195-200
6 p.
|
artikel
|
| 5 |
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies
|
Pedace, Lucia
|
|
2009
|
52 |
4 |
p. 273-276
4 p.
|
artikel
|
| 6 |
Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome
|
Balasubramanian, Meena
|
|
2009
|
52 |
4 |
p. 234-238
5 p.
|
artikel
|
| 7 |
Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
|
Hochstenbach, Ron
|
|
2009
|
52 |
4 |
p. 161-169
9 p.
|
artikel
|
| 8 |
Bazex–Dupré–Christol syndrome: An ectodermal dysplasia with skin appendage neoplasms
|
Castori, Marco
|
|
2009
|
52 |
4 |
p. 250-255
6 p.
|
artikel
|
| 9 |
Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10)
|
Balikova, Irina
|
|
2009
|
52 |
4 |
p. 260-261
2 p.
|
artikel
|
| 10 |
Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features
|
Haddad, Marie-Reine
|
|
2009
|
52 |
4 |
p. 211-217
7 p.
|
artikel
|
| 11 |
Clinical and molecular genetic analysis of a family with macrothrombocytopenia and early onset sensorineural hearing loss
|
Mhatre, Anand N.
|
|
2009
|
52 |
4 |
p. 185-190
6 p.
|
artikel
|
| 12 |
Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family
|
Saadi, Abdelkrim
|
|
2009
|
52 |
4 |
p. 180-184
5 p.
|
artikel
|
| 13 |
Corrigendum to “Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with a E158X BSCL2 mutation” [Eur. J. Med. Genet. 52 (1) (2009) 14–16]
|
Friguls, B.
|
|
2009
|
52 |
4 |
p. 278-279
2 p.
|
artikel
|
| 14 |
CV2 Editorial Board redaction
|
|
|
2009
|
52 |
4 |
p. IFC-
1 p.
|
artikel
|
| 15 |
Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient
|
Ballarati, Lucia
|
|
2009
|
52 |
4 |
p. 218-223
6 p.
|
artikel
|
| 16 |
Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype
|
Wincent, Josephine
|
|
2009
|
52 |
4 |
p. 271-272
2 p.
|
artikel
|
| 17 |
Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice
|
Girirajan, Santhosh
|
|
2009
|
52 |
4 |
p. 224-228
5 p.
|
artikel
|
| 18 |
First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog–Scott syndrome
|
Bedoyan, Jirair K.
|
|
2009
|
52 |
4 |
p. 262-264
3 p.
|
artikel
|
| 19 |
Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population
|
Pouya, Ali Reza
|
|
2009
|
52 |
4 |
p. 170-173
4 p.
|
artikel
|
| 20 |
Frank-ter Haar syndrome with unusual clinical features
|
Dundar, Munis
|
|
2009
|
52 |
4 |
p. 247-249
3 p.
|
artikel
|
| 21 |
Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: A new syndrome?
|
Le Corre, Yannick
|
|
2009
|
52 |
4 |
p. 229-233
5 p.
|
artikel
|
| 22 |
Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene
|
De Rocco, Daniela
|
|
2009
|
52 |
4 |
p. 191-194
4 p.
|
artikel
|
| 23 |
Letter regarding the article: “R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy” by Valenzise et al.
|
van der Zwaag, Paul A.
|
|
2009
|
52 |
4 |
p. 277-
1 p.
|
artikel
|
| 24 |
Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F
|
Ammar-Khodja, Fatima
|
|
2009
|
52 |
4 |
p. 174-179
6 p.
|
artikel
|
| 25 |
Paternally derived der(7)t(Y;7)(p11.1∼11.2;p22.3)dn in a mosaic case with Turner syndrome
|
Polityko, Anna D.
|
|
2009
|
52 |
4 |
p. 207-210
4 p.
|
artikel
|
| 26 |
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation
|
Yanagisawa, Akiko
|
|
2009
|
52 |
4 |
p. 201-206
6 p.
|
artikel
|
| 27 |
Radial aplasia in CHARGE syndrome: A new association
|
Wright, E.M.M. Burkitt
|
|
2009
|
52 |
4 |
p. 239-241
3 p.
|
artikel
|
| 28 |
“Ring leg deformity” in Bartsocas-Pappas syndrome
|
Kalender, Ali Murat
|
|
2009
|
52 |
4 |
p. 269-270
2 p.
|
artikel
|
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