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المؤلفون: Youngs EL; Departments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical, Center, Kansas City, Kansas, USA., Henkhaus RS, Hellings JA, Butler MG

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2012 Apr; Vol. 21 (2), pp. 93-96.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Chromosomes, Human, Pair 4*, Cadherins/*genetics , Chromosome Disorders/*genetics , Factor XI/*genetics , Receptor, Melatonin, MT1/*genetics, Child ; Chromosome Disorders/diagnosis ; Facies ; Humans ; Male

المؤلفون: Youngs EL; Department of Psychiatry and Behavioral Sciences Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA., Dasouki M, Butler MG

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2012 Jan; Vol. 21 (1), pp. 42-44.

نوع المنشور: Case Reports; Letter

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 14/genetics ; Facies ; Female ; Humans ; Infant ; Voice Disorders/genetics

SCR Disease Name: Chromosome 14q, partial deletions

المؤلفون: Youngs EL; Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS, United States. eyoungs@saint-lukes.org, Henkhaus R, Hellings JA, Butler MG

المصدر: European journal of medical genetics [Eur J Med Genet] 2012 Jan; Vol. 55 (1), pp. 32-6. Date of Electronic Publication: 2011 Sep 10.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gene Deletion*, Chromosomes, Human, X/*genetics , Interleukin-1 Receptor Accessory Protein/*genetics , Mental Retardation, X-Linked/*genetics, Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adolescent ; Female ; Genetic Testing ; Hippocampus/metabolism ; Hippocampus/pathology ; Humans ; Male ; Mental Retardation, X-Linked/pathology ; Oligonucleotide Array Sequence Analysis/methods ; Pedigree ; Phenotype

المؤلفون: Butler MG; Department of Psychiatry and Behavioral Sciences, Kansas University Medical Center, 3901 Rainbow Blvd., MS4015, Kansas City, KS 66160, USA., Youngs EL, Roberts JL, Hellings JA

المصدر: Autism research and treatment [Autism Res Treat] 2012; Vol. 2012, pp. 242537. Date of Electronic Publication: 2012 May 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Hindawi Pub. Corp Country of Publication: Egypt NLM ID: 101576459 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2090-1933 (Electronic) Linking ISSN: 20901933 NLM ISO Abbreviation: Autism Res Treat Subsets: PubMed not MEDLINE

المؤلفون: Burnside RD; Laboratory Corporation of America, 1904 Alexander Dr., Research Triangle Park, NC 27709, USA. burnsir@labcorp.com, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG

المصدر: Human genetics [Hum Genet] 2011 Oct; Vol. 130 (4), pp. 517-28. Date of Electronic Publication: 2011 Feb 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion* , Gene Duplication*, Adaptor Proteins, Signal Transducing/*genetics , Chromosomes, Human, Pair 15/*genetics , Developmental Disabilities/*genetics , Language Development Disorders/*genetics , Mental Disorders/*genetics, Adolescent ; Adult ; Angelman Syndrome/genetics ; Autistic Disorder/genetics ; Biomarkers/metabolism ; Child ; Child, Preschool ; Chromosome Disorders ; Comparative Genomic Hybridization ; Disease Susceptibility ; Female ; Gene Expression Profiling ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Oligonucleotide Array Sequence Analysis ; Speech Disorders/genetics ; Young Adult

المؤلفون: Youngs EL; Departments of Psychiatry and Behavioral Sciences and Pediatrics, Kansas University Medical Center, Kansas City, Kansas, USA., Hellings JA, Butler MG

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2011 Jul; Vol. 20 (3), pp. 170-171.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Gene Deletion* , Phenotype*, Chromosomes, Human, Pair 16/*genetics , Repressor Proteins/*genetics, Adolescent ; Adult ; Female ; Humans ; Male

المؤلفون: Youngs EL; Departments of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA., Hellings JA, Butler MG

المصدر: Clinical dysmorphology [Clin Dysmorphol] 2011 Jul; Vol. 20 (3), pp. 143-147.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Deletion*, Chromosomes, Human, Pair 14/*genetics, Female ; Humans ; Infant ; Phenotype ; Syndrome

المؤلفون: Dasouki MJ; Departments of Pediatrics and Internal Medicine, Kansas University Medical Center, Kansas City, Kansas, USA., Youngs EL, Hovanes K

المصدر: Current genomics [Curr Genomics] 2011 May; Vol. 12 (3), pp. 190-203.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Bentham Science Publishers Country of Publication: United Arab Emirates NLM ID: 100960527 Publication Model: Print Cited Medium: Internet ISSN: 1875-5488 (Electronic) Linking ISSN: 13892029 NLM ISO Abbreviation: Curr Genomics Subsets: PubMed not MEDLINE

المؤلفون: Youngs EL; Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA., McCord T, Hellings JA, Spinner NB, Schneider A, Butler MG

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2010 Jan; Vol. 152A (1), pp. 230-3.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Chromosome Aberrations* , Chromosomes, Human, Pair 9*, Abnormalities, Multiple/*genetics, Adolescent ; Child ; Child, Preschool ; Follow-Up Studies ; Humans ; Infant ; Male