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- Journal Article
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- open access
The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency
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- Journal Article
- open access
Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing
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- Journal Article
- open access
Benefits of whole exome sequencing to advance the genetic diagnosis in patients with differences (disorders) of sex development
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Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity
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Isolated maculopathy and moderate rod-cone dystrophy represent the milder end of the RDH12-related retinal dystrophy spectrum
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- Journal Article
- A1
- open access
Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10
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- Journal Article
- A1
- open access
New variants and in silico analyses in GRK1 associated Oguchi disease
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CRB1-associated retinal dystrophies in a Belgian cohort : genetic characteristics and long-term clinical follow-up
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- Journal Article
- A1
- open access
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development
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- Journal Article
- A1
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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
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- Journal Article
- A1
- open access
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism
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Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases
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Incidental or secondary findings : an integrative and patient-inclusive approach to the current debate
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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms