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Phenotypic Variations in the 22q11 Deletion Syndrome — Study in a South Indian Population
Pilli, Satish V. S. S.
,
Anuradha D.
,
Nagesh N.
,
N Manoj
,
Kumar, Raghavannair Suresh
,
Aradhyam Gopala Krishna
Published in Springer India
2016
DOI:
10.1007/s12098-015-1954-5
PMID:
26634267
Volume: 83
Issue: 7
Pages: 746 - 747
Abstract
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References (4)
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Journal Details
Authors (2)
Concepts (44)
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About the journal
Journal
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Indian Journal of Pediatrics
Publisher
Data powered by Typeset
Springer India
ISSN
00195456
Open Access
No
Authors (2)
N Manoj
Department Of Biotechnology
Recent publications
Phenotypic Variations in the 22q11 Deletion Syndrome — Study in a South Indian Population
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Crystal structure of yeast xylose reductase in complex with a novel NADP-DTT adduct provides insights into substrate recognition and catalysis
Aradhyam Gopala Krishna
Department Of Biotechnology
Recent publications
Phenotypic Variations in the 22q11 Deletion Syndrome — Study in a South Indian Population
Identification and characterization of signal peptide of Mitofusin1 (Mfn1)
The repertoire of G protein-coupled receptors in the sea squirt Ciona intestinalis
Left-right axis asymmetry determining human Cryptic gene is transcriptionally repressed by Snail
Concepts (44)
DNA
Adolescent
Adult
ANORECTAL MALFORMATION
Case report
Child
CHILD HOSPITALIZATION
CHROMOSOME 22Q
CHROMOSOME DELETION 22Q11
CLINICAL FEATURE
Computer assisted tomography
CYANOSIS
Dna isolation
Electroencephalography
FACE DYSMORPHIA
FAILURE TO THRIVE
FALLOT TETRALOGY
Female
FLUORESCENCE IN SITU HYBRIDIZATION
FOOT MALFORMATION
HEART VENTRICLE SEPTUM DEFECT
Human
Indian
KARYOTYPING
Letter
LOW SET EAR
Male
MICROPHTHALMIA
MICROTIA
MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION
NOSE MALFORMATION
PHENOTYPIC VARIATION
Preschool child
Reverse transcription polymerase chain reaction
SPEECH DISORDER
Thymus
Young adult
BIOLOGICAL VARIATION
CHROMOSOME DELETION
India
22Q11 DELETION SYNDROME
BIOLOGICAL VARIATION, POPULATION
CHROMOSOME DELETION
Humans
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