| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal auditory event-related potentials in Williams syndrome
|
Fagundes Silva, Liliane Aparecida
|
|
|
64 |
3 |
p.
|
artikel
|
| 2 |
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes
|
Ata, Aysun
|
|
|
64 |
3 |
p.
|
artikel
|
| 3 |
A 3′-truncating FTL mutation associated with hypoferritinemia without neuroferritinopathy
|
Turner, Stefanie
|
|
|
64 |
3 |
p.
|
artikel
|
| 4 |
Clinical practice of a genetics referral selection tool in pediatric cancer patients
|
Demirsoy, Ugur
|
|
|
64 |
3 |
p.
|
artikel
|
| 5 |
Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia
|
Hall, Christine M.
|
|
|
64 |
3 |
p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
|
64 |
3 |
p.
|
artikel
|
| 7 |
Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management
|
Snyder, Emma A.
|
|
|
64 |
3 |
p.
|
artikel
|
| 8 |
GREB1L as a candidate gene of Mayer–Rokitansky–Küster–Hauser Syndrome
|
Kyei Barffour, Isaac
|
|
|
64 |
3 |
p.
|
artikel
|
| 9 |
Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency: In vivo and in vitro studies of the aberrant transcription arising from two novel splice-site variants in SLC25A13
|
Lin, Wei-Xia
|
|
|
64 |
3 |
p.
|
artikel
|
| 10 |
NGLY1 deficiency: Novel variants and literature review
|
Kariminejad, Ariana
|
|
|
64 |
3 |
p.
|
artikel
|
| 11 |
Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome
|
Zhao, Jianbo
|
|
|
64 |
3 |
p.
|
artikel
|
| 12 |
Polycystic liver disease genes: Practical considerations for genetic testing
|
Boerrigter, Melissa M.
|
|
|
64 |
3 |
p.
|
artikel
|
| 13 |
Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation
|
Bergbreiter, Astrid
|
|
|
64 |
3 |
p.
|
artikel
|
| 14 |
Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
|
Kloth, Katja
|
|
|
64 |
3 |
p.
|
artikel
|
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