| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22
|
Koza, Sylvia A.
|
|
|
66 |
7 |
p.
|
artikel
|
| 2 |
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
|
van Eeghen, A.M.
|
|
|
66 |
7 |
p.
|
artikel
|
| 3 |
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome
|
Schön, Michael
|
|
|
66 |
7 |
p.
|
artikel
|
| 4 |
Disruption of FBN1 by an Alu element insertion: A novel genetic cause of Marfan syndrome
|
Helm, Benjamin M.
|
|
|
66 |
7 |
p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
|
66 |
7 |
p.
|
artikel
|
| 6 |
Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
|
Sarma, Asodu Sandeep
|
|
|
66 |
7 |
p.
|
artikel
|
| 7 |
Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression
|
Bhattad, Sagar
|
|
|
66 |
7 |
p.
|
artikel
|
| 8 |
NOTCH2 related disorders: Description and review of the fetal presentation
|
Deb, W.
|
|
|
66 |
7 |
p.
|
artikel
|
| 9 |
Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey
|
Landlust, Annemiek M.
|
|
|
66 |
7 |
p.
|
artikel
|
| 10 |
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing
|
Baalmann, Nadja
|
|
|
66 |
7 |
p.
|
artikel
|
| 11 |
Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice
|
Yoshida, Kaori
|
|
|
66 |
7 |
p.
|
artikel
|
| 12 |
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome
|
Fiorentini, Erika
|
|
|
66 |
7 |
p.
|
artikel
|
| 13 |
Yield of annual endometrial cancer surveillance in women with PTEN Hamartoma Tumor Syndrome
|
Kwinten, Kevin J.J.
|
|
|
66 |
7 |
p.
|
artikel
|
Tijdschrift beschrijving