about
Watson syndrome: is it a subtype of type 1 neurofibromatosis?Noonan syndromePTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effectsAnaesthesia for emergency ventriculo-peritoneal shunt in an adolescent with Noonan's syndrome.Uncharted waters: rare and unclassified cardiomyopathies characterized on cardiac magnetic resonance imagingIris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.The value of the study of natural history in genetic disorders and congenital anomaly syndromes.De Lange syndrome: subjective and objective comparison of the classical and mild phenotypesPrenatal features of Noonan syndrome.Noonan syndrome: clinical aspects and molecular pathogenesis.Noonan syndrome.Discriminating power of localized three-dimensional facial morphology.The natural history of Noonan syndrome: a long-term follow-up study.Noonan syndrome and clinically related disorders.Maternal smoking and blood pressure in 7.5 to 8 year old offspring.Behavioural aspects and psychiatric findings in Noonan's syndrome.Anesthetic considerations and difficult airway management in a case of Noonan syndrome.Clinical manifestations of Noonan syndrome.A clinical study of Noonan syndrome.1995 ASHG presidential address. The challenges and opportunities of times of change.Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency.The other side of Turner's: Noonan's syndromeNoonan syndrome - a new survey.Ras/MAPK syndromes and childhood hemato-oncological diseases.Understanding human diseases with high-throughput quantitative measurement and analysis of molecular signatures.Recent advances in RASopathies.Growth references for Japanese individuals with Noonan syndrome.Noonan syndrome. An update and review for the primary pediatrician.Common causes of short stature detectable by a height surveillance programme.Objective techniques for craniofacial assessment: what are the choices?Noonan syndrome: comparing mutation-positive with mutation-negative dutch patientsNoonan's syndrome and neurofibromatosis.Noonan syndrome: prenatal diagnosis in a woman carrying a PTPN11 gene mutation.PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.“Gestalt diagnosis” for children with suspected genetic syndromes.[Noonan syndrome: from phenotype to growth hormone therapy].Development of disease-specific growth charts in Turner syndrome and Noonan syndrome.Sotos syndrome: evolution of facial phenotype subjective and objective assessment.
P2860
Q24515021-474B7856-DF49-4CDA-99E8-17C6F7BB3E77Q27001641-FC11734A-2691-4FE8-81B4-7555578AFCE5Q28288812-22EEF7C1-CECF-4E47-BF07-D6F750FE6EAEQ30431317-C4CD0065-7A3E-4F37-809B-4B6796F08BE9Q30470370-970557F7-7B90-4C5C-83CF-E886AD4480F0Q33592393-BDCC319B-47B6-4107-BEAC-5DC4AC1FD19BQ33593854-33E3E4B4-BD1D-412D-BFFE-8C7373CEB2A8Q33676984-F20A7522-2491-40AC-A298-AD260F29BB7AQ33679245-FB99867D-2692-460D-83B1-446F89117426Q33695549-F66E8BB4-8D07-46B9-B0AD-571AB19FEF57Q33806161-8D196EC9-D82F-4C93-904D-C9E26BC24237Q33904939-FA1BD0AF-F3BA-4DFA-8348-B93C7ACB0488Q34137531-5595E85A-5C02-47DD-AB6B-E636042744F7Q34567819-8BE0F628-9DE8-4234-89C9-E8E284D5410CQ34678373-3FFE0AC9-4AD6-413E-8943-4104EF549958Q34795728-CC7EF9D0-F616-4ADE-A448-FD5B77FD0F8FQ34795737-3890F6CC-ED46-4F6F-AA10-50C1B9CA8DC6Q35200418-9E46A4BF-26E4-44DB-8B63-93EF05C1780DQ35597673-6DD5275D-C7FE-44C5-88F6-D810C6B64C7BQ35627319-EE40E3F7-56A7-48DB-B06A-07794CC5AA36Q35881851-711AFFDF-351C-4B5D-98F4-1A0CAFA8BA34Q36127065-044E1FEB-C18E-4F33-8706-F6B094F5E2C3Q37201635-72233A02-4DAA-4120-9AC7-E8E0CA11F45EQ37549407-1908735B-7A6A-470A-879E-59EE73DF7F5AQ38068387-2FA6152F-7D6B-470F-8F4D-035837C7E50FQ38092763-04BFC48D-2A69-4F85-8009-D812778C8D58Q38601758-82B8D222-1EC0-4AFD-85F4-07A7CA755EB8Q40229273-68CB1388-8B79-4C6A-9A19-86CF1356C0AAQ40655730-AC9DD383-72A5-4E45-B9A3-0E7905E783D2Q40932014-9CA98CF1-42A6-4CE9-86A3-8699B0132BCBQ41454135-233CE5F3-619C-4399-87F0-6F466A15E0C7Q42018513-1064E611-6FBD-4F70-B564-23C98628C90BQ42993997-E2143168-A783-487E-B1CA-C956F87B065FQ43197770-CE6093E4-21E4-4B0A-A0F0-C939F0644ACCQ44153668-F3EB56B0-84B0-41F7-98FA-9021E2470601Q44360479-09AC7D57-9E90-493D-8FED-D43BF5B01017Q46190359-81200630-0A4D-4102-834E-939CFF6E9617Q46363162-556905A8-0728-4AF4-9D77-28A3B579BD89Q48309238-DE261E16-CC83-415B-94AA-30635EA5D98EQ50993054-1FE0A48F-4C0B-499F-A0C2-8B9CD07DE366
P2860
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年学术文章
@wuu
1985年学术文章
@zh
1985年学术文章
@zh-cn
1985年学术文章
@zh-hans
1985年学术文章
@zh-my
1985年学术文章
@zh-sg
1985年學術文章
@yue
1985年學術文章
@zh-hant
name
Noonan syndrome: the changing phenotype.
@en
Noonan syndrome: the changing phenotype.
@nl
type
label
Noonan syndrome: the changing phenotype.
@en
Noonan syndrome: the changing phenotype.
@nl
prefLabel
Noonan syndrome: the changing phenotype.
@en
Noonan syndrome: the changing phenotype.
@nl
P2093
P356
P1476
Noonan syndrome: the changing phenotype.
@en
P2093
P304
P356
10.1002/AJMG.1320210313
P577
1985-07-01T00:00:00Z