1.
Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia
by Vermeer, Sascha
American journal of human genetics, 2010, Vol.87 (6), p.813-819
2.
Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway
by Schwarze, Ulrike
American journal of human genetics, 2004, Vol.74 (5), p.917-930
3.
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report
by Ragno, Michele
Clinical neurology and neurosurgery, 2015, Vol.139, p.221-223
4.
Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population
by Song, Min-Jung
Journal of human genetics, 2012, Vol.57 (2), p.139-144
5.
EX-HOM (EXome HOMozygosity): A Proof of Principle
by Pippucci, Tommaso
Human heredity, 2011, Vol.72 (1), p.45-53
6.
An atypical form rhizomelic chondrodysplasia punctata in a newborn
by Chatterjee, Sitangshu
Journal of clinical neonatology, 2013, Vol.2 (2), p.108-109
8.
Incidence of pericardial effusion during attacks of familial Mediterranean fever
by Tutar, E
Heart (British Cardiac Society), 2003, Vol.89 (10), p.1257-1258
9.
Anesthetic implications of Ellis-van Creveld syndrome
by Abeles, Andrew I., BS
Journal of clinical anesthesia, 2009, Vol.20 (8), p.618-621
10.
Preimplantation Genetic Diagnosis of Canavan Disease
by Yaron, Yuval
Fetal diagnosis and therapy, 2005, Vol.20 (5), p.465-468
11.
Common Autosomal Recessive Diseases in Oman Derived from a Hospital-Based Registry
by Rajab, A
Community genetics, 2005, Vol.8 (1), p.27-30
12.
Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis
by Arvio, M
Annals of the rheumatic diseases, 2002, Vol.61 (2), p.180-181
13.
Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients
by Arboleda, H
Journal of medical genetics, 1997, Vol.34 (5), p.433-437
14.
Craniopharyngiomas in two consanguineous siblings: case report
by Boch, A L
Neurosurgery, 1997, Vol.41 (5), p.1185-1186
15.
Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings
by LAMA, G
Pediatric nephrology (Berlin, West), 1995, Vol.9 (1), p.19-23
16.
Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl
by BRUNK, Irene
European journal of pediatrics, 2004, Vol.163 (4-5), p.214-217
17.
Familial Mediterranean Fever (FMF) Mutations Occur Frequently in the Greek-Cypriot Population of Cyprus
by Deltas, C. Constantinou
Genetic testing, 2002, Vol.6 (1), p.15-21
18.
Progeria: a cell culture study and clinical report of familial incidence
by Rautenstrauch, T
European Journal of Pediatrics, 1977, Vol.124 (2), p.101-111
19.
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies
by Bergmann, Carsten
Pediatric nephrology (Berlin, West), 2014, Vol.30 (1), p.15-30
20.
Expanding Horizons: Ciliary Proteins Reach Beyond Cilia
by Yuan, Shiaulou
Annual review of genetics, 2013, Vol.47 (1), p.353-376
