Another critical region for deletion of 22q11: a study of 100 patients.
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22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and ReviewDetailed analysis of 22q11.2 with a high density MLPA probe setA method for accurate detection of genomic microdeletions using real-time quantitative PCR.DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletionA deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewAtypical 22q11.2 deletion in a patient with DGS/VCFS spectrumPrenatal diagnosis of the 22q11.2 deletion syndrome.Genotype-phenotype correlation in 22q11.2 deletion syndrome.Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndromeA novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.A Hirschsprung disease locus at 22q11?Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2)Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease.Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.
P2860
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P2860
Another critical region for deletion of 22q11: a study of 100 patients.
description
1997 nî lūn-bûn
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1997年の論文
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1997年学术文章
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1997年学术文章
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1997年学术文章
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1997年学术文章
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1997年学术文章
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1997年学术文章
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1997年學術文章
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Another critical region for deletion of 22q11: a study of 100 patients.
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Another critical region for deletion of 22q11: a study of 100 patients.
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Another critical region for deletion of 22q11: a study of 100 patients.
@en
Another critical region for deletion of 22q11: a study of 100 patients.
@nl
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Another critical region for deletion of 22q11: a study of 100 patients.
@en
Another critical region for deletion of 22q11: a study of 100 patients.
@nl
P2093
P2860
P1476
Another critical region for deletion of 22q11: a study of 100 patients.
@en
P2093
Imaizumi K
Kurahashi H
Nakayama T
Nishisho I
P2860
P304
P356
10.1002/(SICI)1096-8628(19971017)72:2<180::AID-AJMG10>3.0.CO;2-J
P577
1997-10-01T00:00:00Z