Digitale Bibliotheek
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                             17 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease Gourzi, Polyxeni
2019
62 1 p. 77-80
artikel
2 A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction Yu, Seyoung
2019
62 1 p. 81-84
artikel
3 A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate Simsek-Kiper, Pelin Ozlem
2019
62 1 p. 21-26
artikel
4 Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings Concolino, Daniela
2019
62 1 p. 73-76
artikel
5 Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome? Pavone, Piero
2019
62 1 p. 47-54
artikel
6 Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders Vanzo, Rena J.
2019
62 1 p. 15-20
artikel
7 Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG) Li, Guoqiang
2019
62 1 p. 44-46
artikel
8 De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder Shen, Wei
2019
62 1 p. 55-60
artikel
9 Editorial Board 2019
62 1 p. ii
artikel
10 Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients Gazdagh, Gabriella
2019
62 1 p. 27-34
artikel
11 Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform Vaeth, Signe
2019
62 1 p. 1-8
artikel
12 Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors Herriges, John C.
2019
62 1 p. 9-14
artikel
13 Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease Ruskey, Jennifer A.
2019
62 1 p. 65-69
artikel
14 Novel truncating PPM1D mutation in a patient with intellectual disability Porrmann, Joseph
2019
62 1 p. 70-72
artikel
15 Phenotype variability in Hajdu-Cheney syndrome Regev, Miriam
2019
62 1 p. 35-38
artikel
16 Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum Singh, Bharti
2019
62 1 p. 61-64
artikel
17 Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data? Al-Murshedi, Fathiya
2019
62 1 p. 39-43
artikel
                             17 gevonden resultaten
 
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