| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome
|
Verhagen, Judith M.A.
|
|
2014
|
57 |
9 |
p. 510-512
3 p.
|
artikel
|
| 2 |
Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli–Seip syndrome
|
Dyment, D.A.
|
|
2014
|
57 |
9 |
p. 524-526
3 p.
|
artikel
|
| 3 |
Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia
|
Brady, P.D.
|
|
2014
|
57 |
9 |
p. 487-493
7 p.
|
artikel
|
| 4 |
Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
|
Fannemel, Madeleine
|
|
2014
|
57 |
9 |
p. 513-519
7 p.
|
artikel
|
| 5 |
Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings
|
Louw, Jacoba J.
|
|
2014
|
57 |
9 |
p. 532-535
4 p.
|
artikel
|
| 6 |
Interstitial deletion 1p36.32 in two brothers with a distinct phenotype – Overgrowth, macrocephaly and nearly normal intellectual function
|
Di Donato, N.
|
|
2014
|
57 |
9 |
p. 494-497
4 p.
|
artikel
|
| 7 |
New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease
|
Lu, Cong-Xia
|
|
2014
|
57 |
9 |
p. 498-502
5 p.
|
artikel
|
| 8 |
15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity
|
Courage, Carolina
|
|
2014
|
57 |
9 |
p. 520-523
4 p.
|
artikel
|
| 9 |
Raine syndrome: An overview
|
Faundes, Víctor
|
|
2014
|
57 |
9 |
p. 536-542
7 p.
|
artikel
|
| 10 |
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
|
Baquero-Montoya, Carolina
|
|
2014
|
57 |
9 |
p. 503-509
7 p.
|
artikel
|
| 11 |
The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings
|
Couce, María L.
|
|
2014
|
57 |
9 |
p. 527-531
5 p.
|
artikel
|
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