Digital Library
Close Browse articles from a journal
     Journal description
       All volumes of the corresponding journal
         All issues of the corresponding volume
                                       All articles of the corresponding issues
 
                             28 results found
no title author magazine year volume issue page(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.
article
2 A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia Ouertani, Ines
2009
52 4 p. 256-259
4 p.
article
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.
article
4 A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss Feldmann, Delphine
2009
52 4 p. 195-200
6 p.
article
5 A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies Pedace, Lucia
2009
52 4 p. 273-276
4 p.
article
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.
article
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.
article
8 Bazex–Dupré–Christol syndrome: An ectodermal dysplasia with skin appendage neoplasms Castori, Marco
2009
52 4 p. 250-255
6 p.
article
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.
article
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.
article
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.
article
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.
article
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.
article
14 CV2 Editorial Board redaction 2009
52 4 p. IFC-
1 p.
article
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.
article
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.
article
17 Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice Girirajan, Santhosh
2009
52 4 p. 224-228
5 p.
article
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.
article
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.
article
20 Frank-ter Haar syndrome with unusual clinical features Dundar, Munis
2009
52 4 p. 247-249
3 p.
article
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.
article
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.
article
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.
article
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.
article
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.
article
26 POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation Yanagisawa, Akiko
2009
52 4 p. 201-206
6 p.
article
27 Radial aplasia in CHARGE syndrome: A new association Wright, E.M.M. Burkitt
2009
52 4 p. 239-241
3 p.
article
28 “Ring leg deformity” in Bartsocas-Pappas syndrome Kalender, Ali Murat
2009
52 4 p. 269-270
2 p.
article
                             28 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands