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2020Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study., J Urol 2020 05; 203(5): 1017-1023.
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2020LEF1 haploinsufficiency causes ectodermal dysplasia., Clin Genet 2020 04; 97(4): 595-600.
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2019Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus., Prenat Diagn 2019 04; 39(5): 388-393.
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2019Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion., Front Endocrinol (Lausanne) 2019 ; 10(): 263.
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2018Pitfalls in molecular diagnosis of Friedreich ataxia., Eur J Med Genet 2018 Aug; 61(8): 455-458.
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2017Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone., Ann Biol Clin (Paris) 2017 Apr; 75(2): 204-208.
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2016Fetal urine biochemistry in antenatal Bartter syndrome: a case report., Clin Case Rep 2016 09; 4(9): 876-8.
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2016Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone., Prenat Diagn 2016 Jan; 36(1): 88-91.