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                             14 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 An 18 bps in-frame deletion mutation in RUNX2 gene is a population polymorphism rather than a pathogenic variant Hashmi, Jamil Amjad
2019
62 2 p. 124-128
artikel
2 A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family Caridi, Gianluca
2019
62 2 p. 144-148
artikel
3 Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum Luyckx, Ilse
2019
62 2 p. 96
artikel
4 A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin Takenouchi, Toshiki
2019
62 2 p. 93-95
artikel
5 Detection of fetal subchromosomal aberration with cell-free DNA screening led to diagnosis of parental translocation: Review of 11344 consecutive cases in a university hospital Qian, Ye-Qing
2019
62 2 p. 115-123
artikel
6 Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants Chen, Hongbo
2019
62 2 p. 149-160
artikel
7 Editorial Board 2019
62 2 p. ii
artikel
8 Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication Qiao, Ying
2019
62 2 p. 103-108
artikel
9 Expanding the phenotypic spectrum associated with OPHN1 variants Schwartz, Talia S.
2019
62 2 p. 137-143
artikel
10 Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay Low, Karen J.
2019
62 2 p. 97-102
artikel
11 Is MED13L-related intellectual disability a recognizable syndrome? Tørring, Pernille Mathiesen
2019
62 2 p. 129-136
artikel
12 MAN1B-CDG: Novel variants with a distinct phenotype and review of literature Balasubramanian, Meena
2019
62 2 p. 109-114
artikel
13 Oro-dental phenotype in patients with RUNX2 duplication Merametdjian, Laure
2019
62 2 p. 85-89
artikel
14 The prevalence of pseudoxanthoma elasticum: Revised estimations based on genotyping in a high vascular risk cohort Kranenburg, Guido
2019
62 2 p. 90-92
artikel
                             14 gevonden resultaten
 
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