5 results on '"Frances Anne-Marie"'
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2. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
3. Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration
4. Renal Tubular Dysgenesis, a Not Uncommon Autosomal Recessive Disorder Leading to Oligohydramnios
5. X-Linked Spondyloepiphyseal Dysplasia Tarda: Molecular Cause of a Heritable Platyspondyly
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