(Q58025118)

Ondrej Cinek

8

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Jan Betka

Jan Betka

5

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Jan Lebl

Jan Lebl

9

0 references

Q112372928

7

Stanislava Kolouskova

0 references

Barbora Obermannová

1

Barbora Obermannova

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Karolina Banghova

2

Karolina Banghova

0 references

Filip Fencl

6

Filip Fencl

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author name string

Hana M. Dvorakova

European Journal of Pediatrics

4

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language of work or name

English

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publication date

27 August 2008

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published in

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volume

168

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issue

5

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page(s)

569-573

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exact match

https://scigraph.springernature.com/pub.10.1007/s00431-008-0794-y

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cites work

The calcium-sensing receptor and related diseases

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-008-0794-Y

Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00431-008-0794-Y

Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.

21 January 2018

1 reference

12 December 2020

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

12 December 2020

Diseases associated with the extracellular calcium-sensing receptor

1 reference

12 December 2020

Vitamin D requirements during pregnancy

1 reference

12 December 2020

Casting new light on the clinical spectrum of neonatal severe hyperparathyroidism

1 reference

12 December 2020

A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms

1 reference

12 December 2020

Neonatal hyperparathyroidism

1 reference

12 December 2020

Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains

1 reference

12 December 2020

Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review

1 reference

12 December 2020

Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

1 reference

12 December 2020

CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia

1 reference

12 December 2020

In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial [...]

1 reference

12 December 2020

Hypocalciuric hypercalcemia presenting as neonatal rib fractures: a newly described mutation of the calcium-sensing receptor gene

1 reference

12 December 2020

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

1 reference

12 December 2020

Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism

1 reference

12 December 2020

Role of the calcium-sensing receptor in parathyroid gland physiology

1 reference

12 December 2020