Suchergebnisse - "McManus, Sam"

PubPharm (7)

1

Shariant platform : Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

enthalten in: American journal of human genetics | 2022

von Tudini, E. | Andrews, J. | Lawrence, D. | +101

2

Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant

enthalten in: European journal of human genetics : EJHG | 2022

von Yıldız Bölükbaşı, E. | Karolak, J. | Szafranski, P. | +9

3

Validation of EGFR mutation testing on cytological smears of lung cancer using the Idylla platform

enthalten in: Pathology | 2022

von Snell, C. | McManus, S. | Robinson, K. | +4

4

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis : case series and literature review

enthalten in: Pediatric nephrology (Berlin, Germany) | 2022

von Anderson, E. | Aldridge, M. | Turner, R. | +7

5

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review

enthalten in: Pediatric nephrology | 2022

von Anderson, E. | Aldridge, M. | Turner, R. | +7

6

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review

enthalten in: Pediatric nephrology | 2022

von Anderson, E. | Aldridge, M. | Turner, R. | +7

7

A custom next generation sequencing panel to identify the cause of monogenic disorders of insulin secretion, disorders of sexual development and noonan syndrome

enthalten in: International journal of pediatric endocrinology | 2015

von McGown, I. | Williams, M. | McManus, S. | +2

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