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Holoprosencephaly: recommendations for diagnosis and managementA review of 18p deletions.Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and PhenotypeHemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome.Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVsDerivation of induced pluripotent stem cells from the baboon: a nonhuman primate model for preclinical testing of stem cell therapies.Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p DeletionA case of 18p deletion syndrome after blepharoplasty.Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata.Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome.Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effectA Rare Association of Monosomy 18p Syndrome and Polyglandular Autoimmune Syndrome Type IIIA.18p Deletion Syndrome: Case Report with Clinical Consideration and Management.Monosomy 18p presenting with holoprosencephaly and increased nuchal translucency in the first trimester: report of 2 cases.Prenatal diagnosis of monosomy 18p associated with holoprosencephaly: case report.Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy.A study of a rare chromosomal disorder: mosaic 46, XX, del (18)(p11.2)/46, XX, i(18q).Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disabilityDeletion ofAFG3L2associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies
P2860
Q34041528-15EA19C5-C024-4A97-9513-009650CAFC65Q34488627-EC742C24-5B61-4F6E-B110-87C3150EB960Q35154711-05BA7A23-44BD-43DC-8869-9BCC48F47A9CQ35546457-F2903D84-4F66-4F4E-AF31-9D52D623E03DQ35762888-C59A4BE2-4300-4F22-B606-5DE9B5B9DC46Q36291788-E1E9C100-B7E5-4269-AF8B-301422AF070EQ36800533-8F006505-4DEF-43CB-893C-93AAB732ADE9Q37359167-2866F333-3F43-40CA-A5E8-D779FEDDC708Q37397019-C1042351-1D58-4EF9-8159-8FB8092D34F9Q37588029-F35BFFCA-233C-4897-88B8-A31EAFD86796Q37726366-7015BB19-76B0-4ED6-A2B0-5EFB1034C016Q38209803-4CAC1103-7814-48FF-BC0A-D96AFF6C6243Q41580601-39320F91-CF9E-43FF-9849-B8DB4958A926Q42875478-3CC64DC7-8E35-4B7F-BD64-0148CE35C845Q47554653-9286075D-75DD-4AFB-91DB-349F6086768BQ48498424-2DCFB2E3-BF45-4F3E-B9E7-68AFEB8EC1B4Q50437799-610194F4-F915-4A33-AB7D-802BF5EB9AD2Q51849296-FE27D2D9-7111-4BF7-B47B-49B59EC06042Q54395412-C3ADE4BB-2077-4C14-BED5-1062E34E3E0FQ57631266-F0BFCA9E-F907-4967-8B87-9E14FFA6D85BQ58831422-B72BFDEF-8123-444C-B55A-6B49EE1CE333
P2860
description
2008 nî lūn-bûn
@nan
2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
name
Monosomy 18p
@ast
Monosomy 18p
@en
Monosomy 18p
@en-gb
Monosomy 18p
@nl
type
label
Monosomy 18p
@ast
Monosomy 18p
@en
Monosomy 18p
@en-gb
Monosomy 18p
@nl
prefLabel
Monosomy 18p
@ast
Monosomy 18p
@en
Monosomy 18p
@en-gb
Monosomy 18p
@nl
P2860
P921
P3181
P356
P1476
Monosomy 18p
@en
P2093
Catherine Turleau
P2860
P2888
P3181
P356
10.1186/1750-1172-3-4
P407
P5008
P577
2008-02-19T00:00:00Z
P5875
P6179
1038787124