Show
Sort by
-
- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
-
- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
-
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome
-
- Journal Article
- A1
- open access
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
-
FOXP1-related intellectual disability syndrome : a recognisable entity
-
FOXP1-related intellectual disability syndrome: a recognizable entity
-
FOXP1-related intellectual disability syndrome: a recognizable entity
-
Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes
-
Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies
-
Expanding CEP290 mutational spectrum in ciliopathies