Clinical utility gene card for: pseudohypoparathyroidism.
about
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locusCongenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical careEuropean guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.Recent Advances in Imprinting Disorders.Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
P2860
Q34587621-A83F54D8-BF69-4C25-B438-0CBDC44BDED7Q35116923-2C86D24E-068D-4788-A14A-D48647B31DBAQ35184953-4B73D82F-CE8B-45D3-8F9B-66A13C58F7F4Q36338177-98BDB93F-CC6E-4768-87F1-97E66D0678CBQ38882121-061E4023-1B5E-4332-AD5A-E6B13AE5B821Q50904507-39621E73-ACB0-436E-ABCA-81EFE17D4B6AQ53705139-FD7D2934-CA01-4DC4-BE32-41D785755EB2
P2860
Clinical utility gene card for: pseudohypoparathyroidism.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Clinical utility gene card for: pseudohypoparathyroidism.
@en
type
label
Clinical utility gene card for: pseudohypoparathyroidism.
@en
prefLabel
Clinical utility gene card for: pseudohypoparathyroidism.
@en
P2093
P2860
P356
P1476
Clinical utility gene card for: pseudohypoparathyroidism.
@en
P2093
Agnes Linglart
Caroline Silve
Francesca M Elli
Giovanna Mantovani
Guiomar Perez de Nanclares
Intza Garin
P2860
P2888
P356
10.1038/EJHG.2012.211
P577
2012-09-12T00:00:00Z