nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships
|
Matas-Nadal, C. |
|
|
65 |
11 |
p. |
artikel |
2 |
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy
|
Naim, Alessandro |
|
|
65 |
11 |
p. |
artikel |
3 |
A de novo BCL11B variant case manifesting with dystonic movement disorder regarding the article “BCL11B-related disorder in two canadian children: Expanding the clinical phenotype (Prasad et al., 2020).”
|
Harrer, Philip |
|
|
65 |
11 |
p. |
artikel |
4 |
A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review
|
Zhu, Ze-yu |
|
|
65 |
11 |
p. |
artikel |
5 |
A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females
|
Hussain, Shah |
|
|
65 |
11 |
p. |
artikel |
6 |
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency
|
Sakka, Rim |
|
|
65 |
11 |
p. |
artikel |
7 |
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range
|
Salayev, Kamran |
|
|
65 |
11 |
p. |
artikel |
8 |
Associated anomalies in cases with achondroplasia
|
Stoll, Claude |
|
|
65 |
11 |
p. |
artikel |
9 |
“Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma”
|
Cárcamo, Benjamín |
|
|
65 |
11 |
p. |
artikel |
10 |
Challenges of preconception genetic testing in France: A qualitative study
|
Hoarau, Eugénie |
|
|
65 |
11 |
p. |
artikel |
11 |
Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant
|
Kirino, Shizuka |
|
|
65 |
11 |
p. |
artikel |
12 |
C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia
|
Isik, Esra |
|
|
65 |
11 |
p. |
artikel |
13 |
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience
|
Altassan, Ruqaiah |
|
|
65 |
11 |
p. |
artikel |
14 |
Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome
|
Helenius, Kjell |
|
|
65 |
11 |
p. |
artikel |
15 |
Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1
|
Mbwasi, Ronald M. |
|
|
65 |
11 |
p. |
artikel |
16 |
Editorial Board
|
|
|
|
65 |
11 |
p. |
artikel |
17 |
Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
|
Dailey, Christina |
|
|
65 |
11 |
p. |
artikel |
18 |
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
|
Neri, Sabrina |
|
|
65 |
11 |
p. |
artikel |
19 |
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion
|
Bonaglia, Maria Clara |
|
|
65 |
11 |
p. |
artikel |
20 |
LSM1 is the new candidate gene for neurodevelopmental disorder
|
Kok Kilic, Gizem |
|
|
65 |
11 |
p. |
artikel |
21 |
Molecular genetic characterization of Congolese patients with oculocutaneous albinism
|
Mavinga, Laetitia Mpola |
|
|
65 |
11 |
p. |
artikel |
22 |
Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants
|
Caengprasath, Natarin |
|
|
65 |
11 |
p. |
artikel |
23 |
Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome
|
Leegaard, Anne |
|
|
65 |
11 |
p. |
artikel |
24 |
The place of general practitioner in the management of patients with rare disease and intellectual disability: A qualitative study
|
Roux-Levy, Pierre-Henri |
|
|
65 |
11 |
p. |
artikel |
25 |
TRIT1 deficiency: Two novel patients with four novel variants
|
Smol, Thomas |
|
|
65 |
11 |
p. |
artikel |