3
Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis.pdf
Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis
4
bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney.pdf
bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney
7
cerebellar heterotopias_ expanding the phenotype of cerebellar dysgenesis in charge syndrome.[2019][ajnr am j neuroradiol].pdf
cerebellar heterotopias_ expanding the phenotype of cerebellar dysgenesis in charge syndrome.[2019][ajnr am j neuroradiol]
4
variation of gonadal dysgenesis and tumor risk in patients with 45,x_46,xy mosaicism.[2019][urology].pdf
PediatricUrologyVariation GonadalDysgenesis andTumor Risk 45,X/46,XYMosaicismFumi Matsumoto, Satoko
6
two sisters with microphthalmia and anterior segment dysgenesis secondary to a pax6 pathogenic variant with clinically healthy parents_ a case of g.pdf
two sisters with microphthalmia and anterior segment dysgenesis secondary to a pax6 pathogenic variant with clinically healthy parents_ a case of g
5
clinical management in mixed gonadal dysgenesis with chromosomal mosaicism_ considerations in newborns and adolescents.[2019][semin pediatr surg].pdf
clinical management in mixed gonadal dysgenesis with chromosomal mosaicism_ considerations in newborns and adolescents.[2019][semin pediatr surg]
8
Childhood glaucoma genes and phenotypes_ Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.[2020][Exp Eye Res].pdf
Childhood glaucoma genes and phenotypes_ Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.[2020][Exp Eye Res]
2
Primary amenorrhoea due to ovarian dysgenesis a previously undescribed chromosome 12 abnormality.pdf
Primary amenorrhoea due to ovarian dysgenesis a previously undescribed chromosome 12 abnormality
4
MRI Findings of Coexistence of Ectopic Neurohypophysis, Corpus Callosum Dysgenesis, and Periventricular Neuronal Heterotopia.pdf
MRI Findings of Coexistence of Ectopic Neurohypophysis, Corpus Callosum Dysgenesis, and Periventricular Neuronal Heterotopia
6
THE RARE CASE OF MIXED GONADAL DYSGENESIS, MOSAIC KARYOTYPE, PETROCLIVAL MENINGIOMA AND IDIOPATHIC HYPERDEHYDROEPIANDROSTERONISM.pdf
THE RARE CASE OF MIXED GONADAL DYSGENESIS, MOSAIC KARYOTYPE, PETROCLIVAL MENINGIOMA AND IDIOPATHIC HYPERDEHYDROEPIANDROSTERONISM

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