Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions
about
Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotypeThree patients with a 45,X/46,X,psu dic(Xp) karyotype.X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanationX-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX.Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlationsUnique case reports associated with ovarian failure: necessity of two intact x chromosomesA Consanguinity Related Autosomal Translocation which Leads to Premature Ovarian FailureA de novo Reciprocal X; 9 Translocation in A Patient with Premature Ovarian Failure.Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.
P2860
Q24672616-7E5D9A99-4302-42CC-BC66-1B64FF0C6F02Q33680927-7FB2BBA3-1B5A-4DFA-88CC-99844F8CA133Q34043887-825A8BF6-3BD0-4CB2-B793-B4624234F61CQ35039915-A8CF1DB2-2F3C-4F2C-B3ED-E2230D657469Q35655839-D1A17F9D-4CF2-48B0-AE15-4CADD3D90E21Q35889263-B467ED27-816C-496D-8000-3C176907076EQ36247984-D63B4EF3-F8CB-495A-965E-18FDEAEB811EQ36668412-F0B3A4BA-C013-483F-9D34-2D2F57A65C31Q37362935-D426499A-725E-4EC7-9753-851A32F907F5Q41011777-94189660-5436-4FA1-989D-3B5874C4A5CE
P2860
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions
description
1993 nî lūn-bûn
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1993 թուականի Մարտին հրատարակուած գիտական յօդուած
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1993 թվականի մարտին հրատարակված գիտական հոդված
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1993年の論文
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1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
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name
Deletion (X)(q26.1-->q28) in a ...... enotypic-karyotypic deductions
@ast
Deletion (X)(q26.1-->q28) in a ...... enotypic-karyotypic deductions
@en
type
label
Deletion (X)(q26.1-->q28) in a ...... enotypic-karyotypic deductions
@ast
Deletion (X)(q26.1-->q28) in a ...... enotypic-karyotypic deductions
@en
prefLabel
Deletion (X)(q26.1-->q28) in a ...... enotypic-karyotypic deductions
@ast
Deletion (X)(q26.1-->q28) in a ...... enotypic-karyotypic deductions
@en
P2093
P2860
P1476
Deletion (X)(q26.1-->q28) in a ...... enotypic-karyotypic deductions
@en
P2093
A T Tharapel
C E Schwartz
J C Llerena
J L Simpson
K P Anderson
P R Martens
R S Wilroy
P2860
P304
P407
P577
1993-03-01T00:00:00Z