Presentation
Scientific Publications
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2025Journal (source)Mol Autism
Deciphering the genetic basis of developmental language disorder in children ...
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2022Journal (source)J Med Genet.
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
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2019Journal (source)Eur. J. Hum. Genet.
Whole-exome sequence analysis highlights the role of unmasked recessive mutat...
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2018Journal (source)JAMA
Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage...
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2017Journal (source)J. Am. Soc. Nephrol.
Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano...
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2017Journal (source)Am. J. Med. Genet. A
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associate...
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2012Journal (source)J. Med. Genet.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.