| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardation
|
Horii, Yuji
|
|
|
66 |
10 |
p.
|
artikel
|
| 2 |
B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum
|
Coetzer, Kimberly Christine
|
|
|
66 |
10 |
p.
|
artikel
|
| 3 |
Cernunnos deficiency: Further delineation in 5 Egyptian patients
|
EL Hawary, Rabab
|
|
|
66 |
10 |
p.
|
artikel
|
| 4 |
Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns
|
Li, Yu-yu
|
|
|
66 |
10 |
p.
|
artikel
|
| 5 |
Clinical characterization of PLAG1- related Silver-Russell syndrome：A clinical report
|
Dong, Ping
|
|
|
66 |
10 |
p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
|
66 |
10 |
p.
|
artikel
|
| 7 |
Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients
|
Gaillard, Linda
|
|
|
66 |
10 |
p.
|
artikel
|
| 8 |
High TGM1 Allelic Heterogeneity causing Lamellar ichthyosis in a small geographic area in South Mexico: Another Example of the “Réunion Paradox”
|
Chacon-Camacho, O.F.
|
|
|
66 |
10 |
p.
|
artikel
|
| 9 |
3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience
|
Karacan Küçükali, Gülin
|
|
|
66 |
10 |
p.
|
artikel
|
| 10 |
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype
|
Corona-Rivera, Jorge Román
|
|
|
66 |
10 |
p.
|
artikel
|
| 11 |
Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation
|
Shiri, Amirmasoud
|
|
|
66 |
10 |
p.
|
artikel
|
| 12 |
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France
|
Lançon, Allan
|
|
|
66 |
10 |
p.
|
artikel
|
| 13 |
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics
|
Matza Porges, Sigal
|
|
|
66 |
10 |
p.
|
artikel
|
| 14 |
Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
|
Vasconcelos, Alice P.
|
|
|
66 |
10 |
p.
|
artikel
|
| 15 |
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion
|
Lesieur-Sebellin, Marion
|
|
|
66 |
10 |
p.
|
artikel
|
| 16 |
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis
|
Diderich, Karin E.M.
|
|
|
66 |
10 |
p.
|
artikel
|
| 17 |
Tissue specific trisomy 15 mosaicism associated with urogenital malformations
|
Nordenskjöld, Agneta
|
|
|
66 |
10 |
p.
|
artikel
|
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