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                             28 gevonden resultaten
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
                             28 gevonden resultaten
 
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