المؤلفون: Hickey RE; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Baker J; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul 11. Date of Electronic Publication: 2024 Jul 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

المؤلفون: Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J

مؤلفون مشاركون: Care4Rare Canada Consortium, Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1240. Date of Electronic Publication: 2024 May 14.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Dhiman S; Department of Neuroscience, Medical University of South Carolina., Hickey RE; Department of Neurology, Medical University of South Carolina., Thorn KE; Department of Neurology, Medical University of South Carolina., Moss HG; Department of Neuroscience, Medical University of South Carolina; Center for Biomedical Imaging, Medical University of South Carolina., McKinnon ET; Department of Neuroscience, Medical University of South Carolina; Center for Biomedical Imaging, Medical University of South Carolina., Adisetiyo V; Department of Neuroscience, Medical University of South Carolina., Ades-Aron B; Center for Biomedical Imaging, Department of Radiology, New York University School of Medicine., Jensen JH; Department of Neuroscience, Medical University of South Carolina; Center for Biomedical Imaging, Medical University of South Carolina; Department of Radiology and Radiological Science, Medical University of South Carolina; jense@musc.edu., Benitez A; Department of Neurology, Medical University of South Carolina; Center for Biomedical Imaging, Medical University of South Carolina; benitez@musc.edu.

المصدر: Journal of visualized experiments : JoVE [J Vis Exp] 2024 May 17 (207). Date of Electronic Publication: 2024 May 17.

نوع المنشور: Journal Article; Video-Audio Media

بيانات الدورية: Publisher: MYJoVE Corporation Country of Publication: United States NLM ID: 101313252 Publication Model: Electronic Cited Medium: Internet ISSN: 1940-087X (Electronic) Linking ISSN: 1940087X NLM ISO Abbreviation: J Vis Exp Subsets: MEDLINE

مواضيع طبية MeSH: Software* , Diffusion Magnetic Resonance Imaging*/methods, Humans ; Image Processing, Computer-Assisted/methods ; Brain/diagnostic imaging

المؤلفون: Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA. Electronic address: smullegama@genedx.com., Kiernan KA; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Pavlovsky E; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Tilton N; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Sekula A; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Gao H; GeneDx, Gaithersburg, MD 20877, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Engleman K; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Rush ET; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA., Blocker K; Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA., Dipple KM; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Fettig VM; Center for Inherited Cardiovascular Disease, Cardiovascular Genetics Program, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Hare H; Northeastern Ontario Medical Genetics Program, Health Sciences, North Sudbury, ON, Canada., Glass I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Griffin M; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Phornphutkul C; Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA., Massingham L; Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA., Mehta L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Miller DE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Thies J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Merritt JL 2nd; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Muller E 2nd; Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Sawyer SL; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada., Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Hickey RE; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Wolf B; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Choudhary S; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Simonović M; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Zhang Y; Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA., Palculict TB; GeneDx, Gaithersburg, MD 20877, USA., Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Morrow MM; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Yang J; Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA. Electronic address: junyang@utmb.edu., Juusola J; GeneDx, Gaithersburg, MD 20877, USA.

مؤلفون مشاركون: Care4Rare Canada Consortium, Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 778-790. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Musculoskeletal Abnormalities*/genetics , Neurodevelopmental Disorders*/genetics, Animals ; Child ; Humans ; Developmental Disabilities/genetics ; Exons ; Mammals/genetics ; Muscle Hypotonia/genetics ; Neuroblastoma/genetics ; Reactive Oxygen Species

المؤلفون: Ruzhnikov MRZ; Department of Neurology and Neurological Sciences and.; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA., Brimble E; Department of Neurology and Neurological Sciences and., Hickey RE; Department of Medical Genetics, Ann & Robert H. Lurie Children's Hospital, Chicago, IL.

مؤلفون مشاركون: Leukodystrophy Care Network

المصدر: Pediatrics in review [Pediatr Rev] 2021 Mar; Vol. 42 (3), pp. 133-146.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: The Academy Country of Publication: United States NLM ID: 8103046 Publication Model: Print Cited Medium: Internet ISSN: 1526-3347 (Electronic) Linking ISSN: 01919601 NLM ISO Abbreviation: Pediatr Rev Subsets: MEDLINE

مواضيع طبية MeSH: Lipid Metabolism Disorders* , Lysosomal Storage Diseases*, Humans

المؤلفون: Guenzel AJ; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Turgeon CT; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Nickander KK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Peck DS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Pino GB; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Studinski AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Prasad VK; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Kurtzberg J; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Escolar ML; Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Lasio MLD; Department of Pediatrics, Washington University, St. Louis, MO, USA., Pellegrino JE; Department of Pediatrics, Upstate Medical University, Syracuse, NY, USA., Sakonju A; Department of Pediatrics, Upstate Medical University, Syracuse, NY, USA., Hickey RE; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Shallow NM; Vanderbilt University Medical Center, Nashville, TN, USA., Ream MA; Nationwide Children's Hospital, Columbus, OH, USA., Orsini JJ; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, USA., Gelb MH; Departments of Chemistry and Biochemistry, University of Washington, Seattle, WA, USA., Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Gavrilov DK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. matern@mayo.edu.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jun; Vol. 22 (6), pp. 1108-1118. Date of Electronic Publication: 2020 Feb 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Leukodystrophy, Globoid Cell*/diagnosis , Leukodystrophy, Globoid Cell*/genetics , Psychosine*, Dried Blood Spot Testing ; Galactosylceramidase/genetics ; Humans ; Infant, Newborn ; Neonatal Screening

المؤلفون: Kuttner RE, Hickey RE

المصدر: Journal of the National Medical Association [J Natl Med Assoc] 1970 Jan; Vol. 62 (1), pp. 25-6.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7503090 Publication Model: Print Cited Medium: Print ISSN: 0027-9684 (Print) Linking ISSN: 00279684 NLM ISO Abbreviation: J Natl Med Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Culture* , Hallucinogens* , Perception*, Humans

المؤلفون: Kuttner RE, Lorincz AB, Hickey RE

المصدر: Perceptual and motor skills [Percept Mot Skills] 1969 Dec; Vol. 29 (3), pp. 919-21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: SAGE Country of Publication: United States NLM ID: 0401131 Publication Model: Print Cited Medium: Print ISSN: 0031-5125 (Print) Linking ISSN: 00315125 NLM ISO Abbreviation: Percept Mot Skills Subsets: MEDLINE

مواضيع طبية MeSH: Astrology* , Culture* , Projective Techniques*, Humans