Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism
about
Phosphate and FGF-23Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.A naturally occurring isoform inhibits parathyroid hormone receptor trafficking and signalingImprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cellsPseudohypoparathyroidism as a rare cause of bilateral slipped capital femoral epiphysisIdentification of a novel mutation in a patient with pseudohypoparathyroidism type Ia.Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy.
P2860
Q24610674-97B7533F-BDA2-49CF-8E0F-BF7A797F2F23Q34344912-4A7186E4-5EFB-4C8E-B41F-9975234F0B64Q35229970-1DAC5C14-896D-407C-8319-9AD138482D06Q35613804-AA89F80C-2CF2-4530-B196-79BB533C1ABEQ36528688-A07CB958-5ADB-4E82-A262-590F38FE5E85Q42739008-5AB281A6-D317-4AA8-9173-E30C0CE51309Q43075171-8262670E-01E0-4329-A066-1641ED53FF4E
P2860
Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism
description
2006 nî lūn-bûn
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2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2006 թվականի մայիսին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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name
Different mutations within or ...... ms of pseudohypoparathyroidism
@ast
Different mutations within or ...... ms of pseudohypoparathyroidism
@en
Different mutations within or ...... ms of pseudohypoparathyroidism
@nl
type
label
Different mutations within or ...... ms of pseudohypoparathyroidism
@ast
Different mutations within or ...... ms of pseudohypoparathyroidism
@en
Different mutations within or ...... ms of pseudohypoparathyroidism
@nl
prefLabel
Different mutations within or ...... ms of pseudohypoparathyroidism
@ast
Different mutations within or ...... ms of pseudohypoparathyroidism
@en
Different mutations within or ...... ms of pseudohypoparathyroidism
@nl
P1476
Different mutations within or ...... ms of pseudohypoparathyroidism
@en
P2093
Harald Jüppner
Murat Bastepe
P407
P478
19 Suppl 2
P577
2006-05-01T00:00:00Z