| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal cleavage and developmental arrest of human preimplantation embryos in vitro
|
McCollin, Abeo
|
|
|
63 |
2 |
p.
|
artikel
|
| 2 |
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1
|
Duong, June
|
|
|
63 |
2 |
p.
|
artikel
|
| 3 |
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1
|
Amari, Shoichiro
|
|
|
63 |
2 |
p.
|
artikel
|
| 4 |
BCAP31-related syndrome: The first de novo report
|
Rinaldi, Berardo
|
|
|
63 |
2 |
p.
|
artikel
|
| 5 |
Chemical screens in a zebrafish model of CHARGE syndrome identifies small molecules that ameliorate disease-like phenotypes in embryo
|
Asad, Zainab
|
|
|
63 |
2 |
p.
|
artikel
|
| 6 |
Clinical benefits of preimplantation genetic testing for aneuploidy (PGT-A) for all in vitro fertilization treatment cycles
|
Anderson, R.E.
|
|
|
63 |
2 |
p.
|
artikel
|
| 7 |
Clinical outcomes after the transfer of blastocysts characterized as mosaic by high resolution Next Generation Sequencing- further insights
|
Munné, Santiago
|
|
|
63 |
2 |
p.
|
artikel
|
| 8 |
Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd
|
Le Fevre, Anna
|
|
|
63 |
2 |
p.
|
artikel
|
| 9 |
Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms
|
Redwood, A.
|
|
|
63 |
2 |
p.
|
artikel
|
| 10 |
Editorial Board
|
|
|
|
63 |
2 |
p.
|
artikel
|
| 11 |
Editorial for the special issue
|
Yaron, Yuval
|
|
|
63 |
2 |
p.
|
artikel
|
| 12 |
Experts reflecting on the duty to recontact patients and research participants; why professionals should take the lead in developing guidelines
|
Mitchell, Colin
|
|
|
63 |
2 |
p.
|
artikel
|
| 13 |
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males
|
Oliveira, João P.
|
|
|
63 |
2 |
p.
|
artikel
|
| 14 |
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature
|
Ting, Chun Yi
|
|
|
63 |
2 |
p.
|
artikel
|
| 15 |
Heart transplantation in Danon disease: Long term single centre experience and review of the literature
|
Di Nora, Concetta
|
|
|
63 |
2 |
p.
|
artikel
|
| 16 |
Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions
|
Marzin, Pauline
|
|
|
63 |
2 |
p.
|
artikel
|
| 17 |
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population
|
Weiss, Karin
|
|
|
63 |
2 |
p.
|
artikel
|
| 18 |
Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type
|
Zima, Judith
|
|
|
63 |
2 |
p.
|
artikel
|
| 19 |
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation
|
de Almeida Jr., Ivan Gonçalves
|
|
|
63 |
2 |
p.
|
artikel
|
| 20 |
Next generation sequencing in recurrent pregnancy loss-approaches and outcomes
|
Rajcan-Separovic, Evica
|
|
|
63 |
2 |
p.
|
artikel
|
| 21 |
Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement
|
Le Duc, Diana
|
|
|
63 |
2 |
p.
|
artikel
|
| 22 |
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene
|
Õunap, Katrin
|
|
|
63 |
2 |
p.
|
artikel
|
| 23 |
Phenotypic presentations of Hajdu-Cheney syndrome according to age – 5 distinct clinical presentations
|
Graversen, Lise
|
|
|
63 |
2 |
p.
|
artikel
|
| 24 |
p.Ser348Cys mutation in FGFR3 gene leads to “Mild ACH /Severe HCH” phenotype
|
Bengur, Fuat Baris
|
|
|
63 |
2 |
p.
|
artikel
|
| 25 |
Telomeres and genomic instability during early development
|
Keefe, David L.
|
|
|
63 |
2 |
p.
|
artikel
|
| 26 |
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism
|
Garzo, Maria
|
|
|
63 |
2 |
p.
|
artikel
|
| 27 |
Time lapse: A glimpse into prehistoric genomics
|
Griffin, Darren K.
|
|
|
63 |
2 |
p.
|
artikel
|
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