15 results on '"Mittaz-Crettol, Laureane"'
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2. Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes
3. Developmental disorder and spastic paraparesis in two sisters with aTCF7L2truncating variant inherited from a mosaic mother
4. Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
5. CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations
6. Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
7. Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum
8. Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis
9. Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach
10. Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis
11. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A
12. Atelosteogenesis Type 2/Diastrophic Dysplasia Phenotypic Spectrum: From Prenatal to Preimplantation Genetic Diagnosis
13. Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
14. 28. Localization of ADAMTS-1 and proteolytic cleavage of versican during cumulus matrix expansion and ovulation
15. High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder.
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