Digitale Bibliotheek
Sluiten Bladeren door artikelen uit een tijdschrift
     Tijdschrift beschrijving
       Alle jaargangen van het bijbehorende tijdschrift
         Alle afleveringen van het bijbehorende jaargang
                                       Alle artikelen van de bijbehorende aflevering
 
                             11 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype Tougaard, Birgitte G.
2016
59 9 p. 474-477
4 p.
artikel
2 A novel MIP mutation in familial congenital nuclear cataracts Qin, Litao
2016
59 9 p. 488-491
4 p.
artikel
3 Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability Naoufal, Rania
2016
59 9 p. 483-487
5 p.
artikel
4 Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor Breckpot, Jeroen
2016
59 9 p. 436-443
8 p.
artikel
5 Genetic testing and counseling in the case of an autism diagnosis: A caregivers perspective Hens, Kristien
2016
59 9 p. 452-458
7 p.
artikel
6 Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome Jiraanont, P.
2016
59 9 p. 459-462
4 p.
artikel
7 Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome Chakroun, Amine
2016
59 9 p. 444-451
8 p.
artikel
8 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review Rocha, Helena
2016
59 9 p. 478-482
5 p.
artikel
9 The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome Hervé, B.
2016
59 9 p. 463-469
7 p.
artikel
10 Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa Skopkova, Martina
2016
59 9 p. 429-435
7 p.
artikel
11 Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder Bhat, Gifty
2016
59 9 p. 470-473
4 p.
artikel
                             11 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland