Suchergebnisse - "Skeletal dysplasias"

PubPharm (1.246)

1

Involvement of kinesins in skeletal dysplasia - a review

enthalten in: American journal of physiology. Cell physiology | 2024

von Bouchenafa, R. | de Sousa Brito, F. | Pirog, K.

2

What Is the Role for Pediatric Endocrinologists in the Management of Skeletal Dysplasias?

enthalten in: The Journal of clinical endocrinology and metabolism | 2024

von Merchant, N. | Polgreen, L. | Rosenfeld, R.

3

Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas : a cross-sectional study

enthalten in: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation | 2024

von Boarini, M. | Tremosini, M. | Di Cecco, A. | +12

4

Sulfate : a neglected (but potentially highly relevant) anion

enthalten in: Essays in biochemistry | 2024

von den Bakker, E. | Smith, D. | Finken, M. | +4

5

A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia

enthalten in: Congenital anomalies | 2024

von Nagayama, S. | Takahashi, H. | Hasegawa, F. | +7

6

Renal Pathology of Ciliopathies

enthalten in: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society | 2024

von Sekar, T. | Sebire, N.

7

Evaluation of functionality-mobility in patients with skeletal dysplasias. Application of the STEMS tool ("everyday symptoms and mobility screening tool for skeletal dysplasias")

enthalten in: American journal of medical genetics. Part A | 2024

von Ramos-Mejia, R. | Isoldi, G. | Ireland, P. | +2

8

RUNX2-related metaphyseal dysplasia with maxillary hypoplasia : A rare skeletal disorder resembling SFRP4-related Pyle disease

enthalten in: Clinical genetics | 2024

von Hordyjewska-Kowalczyk, E. | Wuyts, W. | Boeckx, N. | +3

9

Prenatal ultrasound findings and prenatal diagnosis of fetal skeletal dysplasia

enthalten in: Journal of clinical ultrasound : JCU | 2024

von Li, L. | Jin, X. | Liu, S. | +1

10

Hand Radiographs in Skeletal Dysplasia : A Pictorial Review

enthalten in: The Indian journal of radiology & imaging | 2024

von S, D. | Chandola, S. | Jain, A. | +3

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