Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.
about
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndromeThe C20orf133 gene is disrupted in a patient with Kabuki syndromeCHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.Autoimmune haematological disorders in two Italian children with Kabuki syndromeUnmasking Kabuki syndrome.The C20orf133 gene is disrupted in a patient with Kabuki syndrome.Kabuki syndrome: diagnostic and treatment considerations.Kabuki syndrome: clinical and molecular diagnosis in the first year of life.Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.Kabuki Syndrome with Cleft Palate.Recurrent dislocation of the patella in kabuki make-up syndrome.Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.Update on 13 Syndromes Affecting Craniofacial and Dental Structures.Lower lip pits: van der woude or kabuki syndrome?Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement.The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome.Body proportions in children with Kabuki syndrome.Hypoglycemia in Kabuki syndrome.
P2860
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P2860
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Kabuki syndrome: Clinical data ...... nes for preventive management.
@en
Kabuki syndrome: Clinical data ...... nes for preventive management.
@nl
type
label
Kabuki syndrome: Clinical data ...... nes for preventive management.
@en
Kabuki syndrome: Clinical data ...... nes for preventive management.
@nl
prefLabel
Kabuki syndrome: Clinical data ...... nes for preventive management.
@en
Kabuki syndrome: Clinical data ...... nes for preventive management.
@nl
P2093
P2860
P356
P1476
Kabuki syndrome: Clinical data ...... nes for preventive management.
@en
P2093
Constance Th R M Schrander-Stumpel
Jaap J P Schrander
Leopold M G Curfs
Liesbeth Spruyt
Truus Defloor
P2860
P304
P356
10.1002/AJMG.A.30331
P407
P577
2005-01-01T00:00:00Z