deletion syndrome

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7/28/2019 Deletion Syndrome

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Syndrome-Speciﬁc Growth Charts for 22q11.2 Deletion ...€¦ · Alex Habel, MD, FRCP, MRCPCH, ... speciﬁc growth charts for 22q11.2 deletion syndrome in Caucasian children.

Review The genomic basis of the Williams – Beuren syndrome · Keywords. Williams-Beuren syndrome, non-allelic homologous recombination, deletion, duplication, 7q11.23, elastin gene,

01 Title Consensus Document on 22q11 Deletion Syndrome Mas… · Max Appeal! 22q11DS Consensus Document 1 Consensus Document on 22q11 Deletion Syndrome (22q11DS) MaxAppeal

Growth charts for 22q11 deletion syndrome · FIG. 14. BMI in males with 22q11 deletion syndrome, ages 2–20 years. Tarquinio DC, JonesMC, Jones KL, Bird LM. 2012. Growth charts for

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Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multi ...orca.cf.ac.uk/104397/1/Manuscript_R2_Jan4.pdf · Nearly one-third of individuals with 22q11.2 deletion syndrome (22q11.2DS)

Stanislav Zakharenko: Studying Psychosis in 22q11 Deletion Syndrome

BMC Medical Genetics BioMed Central - Springer · BMC Medical Genetics Research article Open Access A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical

UvA-DARE (Digital Academic Repository) Molecular and ... · 22q11.2 deletion syndrome (22q11.2DS) comprises DiGeorge syndrome, velocardiofacial syndrome and conotruncal anomaly face

Partial deletion Jacobsen syndrome - BMJ

Dissecting the phenotypes of Dravet syndrome by gene deletion · Dissecting the phenotypes of Dravet syndrome by gene deletion Moran Rubinstein, Sung Han, Chao Tai, Ruth E. Westenbroek,

Apparent homozygous deletion identified in Alström syndrome patient

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Hematological abnormalities and 22q11.2 deletion syndrome · The 22q11.2 deletion syndrome (22q11DS) is a common genetic disease characterized by broad ... behavioral changes, neuropsychomotor