| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships
|
Matas-Nadal, C.
|
|
|
65 |
11 |
p.
|
article
|
| 2 |
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy
|
Naim, Alessandro
|
|
|
65 |
11 |
p.
|
article
|
| 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.
|
article
|
| 4 |
A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review
|
Zhu, Ze-yu
|
|
|
65 |
11 |
p.
|
article
|
| 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.
|
article
|
| 6 |
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency
|
Sakka, Rim
|
|
|
65 |
11 |
p.
|
article
|
| 7 |
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range
|
Salayev, Kamran
|
|
|
65 |
11 |
p.
|
article
|
| 8 |
Associated anomalies in cases with achondroplasia
|
Stoll, Claude
|
|
|
65 |
11 |
p.
|
article
|
| 9 |
“Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma”
|
Cárcamo, Benjamín
|
|
|
65 |
11 |
p.
|
article
|
| 10 |
Challenges of preconception genetic testing in France: A qualitative study
|
Hoarau, Eugénie
|
|
|
65 |
11 |
p.
|
article
|
| 11 |
Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant
|
Kirino, Shizuka
|
|
|
65 |
11 |
p.
|
article
|
| 12 |
C20orf24: A potential novel gene responsible for Cerebrofaciothoracic Dysplasia
|
Isik, Esra
|
|
|
65 |
11 |
p.
|
article
|
| 13 |
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience
|
Altassan, Ruqaiah
|
|
|
65 |
11 |
p.
|
article
|
| 14 |
Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome
|
Helenius, Kjell
|
|
|
65 |
11 |
p.
|
article
|
| 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.
|
article
|
| 16 |
Editorial Board
|
|
|
|
65 |
11 |
p.
|
article
|
| 17 |
Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
|
Dailey, Christina
|
|
|
65 |
11 |
p.
|
article
|
| 18 |
Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes
|
Neri, Sabrina
|
|
|
65 |
11 |
p.
|
article
|
| 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.
|
article
|
| 20 |
LSM1 is the new candidate gene for neurodevelopmental disorder
|
Kok Kilic, Gizem
|
|
|
65 |
11 |
p.
|
article
|
| 21 |
Molecular genetic characterization of Congolese patients with oculocutaneous albinism
|
Mavinga, Laetitia Mpola
|
|
|
65 |
11 |
p.
|
article
|
| 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.
|
article
|
| 23 |
Succesful MEK-inhibition of severe hypertrophic cardiomyopathy in RIT1-related Noonan Syndrome
|
Leegaard, Anne
|
|
|
65 |
11 |
p.
|
article
|
| 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.
|
article
|
| 25 |
TRIT1 deficiency: Two novel patients with four novel variants
|
Smol, Thomas
|
|
|
65 |
11 |
p.
|
article
|
Journal description