| 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
|
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