Suchergebnisse - "Rush, Eric T"

PubPharm (81)

1

IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

enthalten in: bioRxiv.org | 2024

von Cohen, A. | Farrow, E. | Abdelmoity, A. | +87

2

Correction : Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

enthalten in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA | 2024

von Khan, A. | Brandi, M. | Rush, E. | +29

ErratumFor: Osteoporos Int. 2024 Mar;35(3):439-449. - PMID 37982856

3

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

enthalten in: American journal of human genetics | 2024

von Mullegama, S. | Kiernan, K. | Torti, E. | +39

4

Hypophosphatasia diagnosis : current state of the art and proposed diagnostic criteria for children and adults

enthalten in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA | 2024

von Khan, A. | Brandi, M. | Rush, E. | +29

ErratumIn: Osteoporos Int. 2024 Mar 18;:. - PMID 38498158

5

Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

enthalten in: Osteoporosis international | 2024

von Khan, A. | Brandi, M. | Rush, E. | +29

6

The challenge of hypophosphatasia diagnosis in adults : results from the HPP International Working Group Literature Surveillance

enthalten in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA | 2024

von Brandi, M. | Khan, A. | Rush, E. | +29

ErratumIn: Osteoporos Int. 2024 Mar 18;:. - PMID 38498158

7

The Global ALPL gene variant classification project : Dedicated to deciphering variants

enthalten in: Bone | 2024

von Farman, M. | Rehder, C. | Malli, T. | +18

8

Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

enthalten in: Osteoporosis international | 2023

von Khan, A. | Brandi, M. | Rush, E. | +29

9

The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance

enthalten in: Osteoporosis international | 2023

von Brandi, M. | Khan, A. | Rush, E. | +29

10

Jansen-de Vries syndrome : Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

enthalten in: American journal of medical genetics. Part A | 2023

von Wojcik, M. | Srivastava, S. | Agrawal, P. | +37

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