| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel splicing variant in MICAL-1 gene is associated with epilepsy
|
Yang, Haiyan
|
|
|
69 |
C |
p.
|
artikel
|
| 2 |
Atlantoaxial dislocation in the setting of NMLFS
|
Abughofah, Yousaf
|
|
|
69 |
C |
p.
|
artikel
|
| 3 |
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
|
Matsumoto, Mio
|
|
|
69 |
C |
p.
|
artikel
|
| 4 |
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
|
Herlin, Laura Krogh
|
|
|
69 |
C |
p.
|
artikel
|
| 5 |
Congenital Adrenal Hyperplasia with Combined 21-hydroxylase deficiency and 17α-hydroxylase/17,20-lyase deficiency: An undervirilized male
|
Kara, Leyla
|
|
|
69 |
C |
p.
|
artikel
|
| 6 |
DPF2-related Coffin-Siris syndrome type 7 in two generations
|
Kolokotronis, Konstantinos
|
|
|
69 |
C |
p.
|
artikel
|
| 7 |
Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature
|
Alharbi, Ralah
|
|
|
69 |
C |
p.
|
artikel
|
| 8 |
First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant
|
Tėvelytė, Ieva
|
|
|
69 |
C |
p.
|
artikel
|
| 9 |
From biology to personalized medicine: Recent knowledge in osteosarcoma
|
Mohr, Audrey
|
|
|
69 |
C |
p.
|
artikel
|
| 10 |
Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta
|
Ciantar, Natalie
|
|
|
69 |
C |
p.
|
artikel
|
| 11 |
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
|
Mégarbané, Andre
|
|
|
69 |
C |
p.
|
artikel
|
| 12 |
Identification of a pathogenic deep intronic variant in ATRX ends a diagnostic odyssey
|
van der Smagt, Jasper J.
|
|
|
69 |
C |
p.
|
artikel
|
| 13 |
Mother and daughter with Kenny-Caffey syndrome: the adult phenotype
|
Tonelli, L.
|
|
|
69 |
C |
p.
|
artikel
|
| 14 |
Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND
|
Funck-Brentano, Thomas
|
|
|
69 |
C |
p.
|
artikel
|
| 15 |
Penetrance, variable expressivity and monogenic neurodevelopmental disorders
|
de Masfrand, Servane
|
|
|
69 |
C |
p.
|
artikel
|
| 16 |
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy)
|
Alessandri, Jean-Luc
|
|
|
69 |
C |
p.
|
artikel
|
| 17 |
PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature
|
Leduc, Fiona
|
|
|
69 |
C |
p.
|
artikel
|
| 18 |
Rapid detection of common variants and deletions of CYP21A2 using MALDI-TOF MS
|
Yin, Xiaoshan
|
|
|
69 |
C |
p.
|
artikel
|
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