Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.

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Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

@zh

2017年学术文章

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2017年学术文章

@zh-hans

2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.

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Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.

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Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.

@en

Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.

@nl

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Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.

@en

Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.

@nl

P1476

Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.

@en

P2093

Elahna Paul

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Harald Jüppner

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Michelle L Katz

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Ryan W Carroll

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P2860

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

Genetic disorders and defects in vitamin d action.

Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

Clinical practice. Hypoparathyroidism.

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

P304

2266-2275

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P31

scholarly article

P356

10.1056/NEJMCPC1616019

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P407

English

P433

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P478

376

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P577

2017-06-01T00:00:00Z

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P698

28591527

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P921

swallowing

P932

5939933

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