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
 
                             19 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report Michalska, Eliza
2019
62 9 p.
artikel
2 A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients Esfahani, Maryam Shaykholeslam
2019
62 9 p.
artikel
3 A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders Miolo, Gianmaria
2019
62 9 p.
artikel
4 A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease Miura, Yuichiro
2019
62 9 p.
artikel
5 A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing Hochstenbach, Ron
2019
62 9 p.
artikel
6 Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion Mottet, Nicolas
2019
62 9 p.
artikel
7 Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping Isik, Esra
2019
62 9 p.
artikel
8 Editorial Board 2019
62 9 p.
artikel
9 Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants Liu, Yi
2019
62 9 p.
artikel
10 HAND2 loss-of-function mutation causes familial dilated cardiomyopathy Liu, Hua
2019
62 9 p.
artikel
11 Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability Rosti, Giulia
2019
62 9 p.
artikel
12 Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome Narumi-Kishimoto, Yoko
2019
62 9 p.
artikel
13 Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux Ain, Noor ul
2019
62 9 p.
artikel
14 Oguchi type I caused by a homozygous missense variation in the SAG gene Colombo, Leonardo
2019
62 9 p.
artikel
15 Sex chromosomes-linked single-gene disorders involved in human infertility Jedidi, Ines
2019
62 9 p.
artikel
16 SZT2 mutation in a boy with intellectual disability, seizures and autistic features Kariminejad, Ariana
2019
62 9 p.
artikel
17 Triple surveillance: The future for birth defect registries Lowry, R. Brian
2019
62 9 p.
artikel
18 Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases Jeffries, Lauren
2019
62 9 p.
artikel
19 WDR73-related galloway mowat syndrome with collapsing glomerulopathy El Younsi, Mariem
2019
62 9 p.
artikel
                             19 gevonden resultaten
 
 Koninklijke Bibliotheek - Nationale Bibliotheek van Nederland
Toegankelijkheidsverklaring