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                             11 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy Sekiguchi, Kazuhito
2018
61 6 p. 312-314
artikel
2 A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria AlTassan, Ruqaiah
2018
61 6 p. 307-311
artikel
3 Editorial Board 2018
61 6 p. ii
artikel
4 First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome Huynh, Minh-Tuan
2018
61 6 p. 322-328
artikel
5 Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre Rodrigues, Jorge
2018
61 6 p. 341-347
artikel
6 Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain) Sánchez-Bermúdez, Ana Isabel
2018
61 6 p. 355-361
artikel
7 Novel DCC variants in congenital mirror movements and evaluation of disease-associated missense variants Bierhals, Tatjana
2018
61 6 p. 329-334
artikel
8 Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations Noordman, Iris
2018
61 6 p. 301-306
artikel
9 SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant Errichiello, Edoardo
2018
61 6 p. 335-340
artikel
10 Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype Paderova, Jana
2018
61 6 p. 315-321
artikel
11 Waardenburg syndrome: Novel mutations in a large Brazilian sample Bocángel, Magnolia Astrid Pretell
2018
61 6 p. 348-354
artikel
                             11 gevonden resultaten
 
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