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CHARGE syndrome: clinical diagnosis.

Autor: Hefner MA, Davenport SLH

Publikováno v: ASHA Leader; 10/17/2006, Vol. 11 Issue 14, p7-40, 2p

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Autor: Moccia A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Srivastava A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Skidmore JM; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Bernat JA; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Wheeler M; University of Washington Center for Mendelian Genomics, University of Washington, Seattle, Washington, USA., Chong JX; University of Washington Center for Mendelian Genomics, University of Washington, Seattle, Washington, USA., Nickerson D; University of Washington Center for Mendelian Genomics, University of Washington, Seattle, Washington, USA., Bamshad M; University of Washington Center for Mendelian Genomics, University of Washington, Seattle, Washington, USA., Hefner MA; Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri, USA., Martin DM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA. donnamm@umich.edu.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA. donnamm@umich.edu., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA. sbielas@umich.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Sep; Vol. 20 (9), pp. 1022-1029. Date of Electronic Publication: 2018 Jan 04.

12th International CHARGE syndrome conference proceedings.

Autor: Martin DM; Departments of Human Genetics, The University of Michigan Medical School, Ann Arbor, Michigan.; Departments of Pediatrics and Communicable Diseases, The University of Michigan Medical School, Ann Arbor, Michigan., Salem-Hartshorne N; Social Science Division, Delta College, University Center, Michigan., Hartshorne TS; Department of Psychology, Central Michigan University, Mt Pleasant, Michigan., Scacheri PC; Department of Genetics and Genomics Sciences, Case Western Reserve University, Cleveland, Ohio., Hefner MA; Saint Louis University School of Medicine, St Louis, Missouri.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Apr; Vol. 170A (4), pp. 856-69. Date of Electronic Publication: 2016 Jan 11.