| 1 |
Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations.
38
|
Choi M...Nickel P
|
30661074
|
2019 |
| 2 |
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.
38
|
Martinez-Thompson JM...Milone M
|
28881388
|
2018 |
| 3 |
Understanding mutational effects in digenic diseases.
38
|
Gazzo A...Lenaerts T
|
28911095
|
2017 |
| 4 |
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.
38
|
Gupta S...Jerome-Majewska LA
|
27148587
|
2016 |
| 5 |
Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.
38
|
Waschk DE...Ledig S
|
26610373
|
2016 |
| 6 |
Facioscapulohumeral muscular dystrophy.
38
|
Sacconi S...Desnuelle C
|
24882751
|
2015 |
| 7 |
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
38
|
Pangrazio A...Frattini A
|
18715141
|
2009 |
| 8 |
Clinical manifestations of impaired GnRH neuron development and function.
38
|
Kim HG...Layman LC
|
18253056
|
2008 |
| 9 |
Evidence of oligogenic inheritance in nephronophthisis.
38
|
Hoefele J...Hildebrandt F
|
17855640
|
2007 |
| 10 |
Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease.
38
|
Gao YQ...Farber DB
|
17356515
|
2007 |
| 11 |
Hexose-6-phosphate dehydrogenase confers oxo-reductase activity upon 11 beta-hydroxysteroid dehydrogenase type 1.
38
|
Bujalska IJ...Stewart PM
|
15956339
|
2005 |
| 12 |
Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.
38
|
Goldberg AF...Molday RS
|
8943002
|
1996 |
| 13 |
No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers.
38
|
Oostra RJ...Bleeker-Wagemakers EM
|
8834251
|
1996 |
