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المؤلفون: Lozano Chinga MM; Primary Children's Hospital, University of Utah, Salt Lake City, Utah, USA.; University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA., Bertuch AA; Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA., Afify Z; Primary Children's Hospital, University of Utah, Salt Lake City, Utah, USA., Dollerschell K; Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA., Hsu JI; Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA., John TD; Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA., Rao ES; Johns Hopkins Hospital, Baltimore, Maryland, USA., Rowe RG; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts, USA., Sankaran VG; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts, USA., Shimamura A; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts, USA., Williams DA; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts, USA., Nakano TA; Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1826-1835. Date of Electronic Publication: 2023 Apr 17.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

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

مواضيع طبية MeSH: Bone Marrow Diseases*/diagnosis , Bone Marrow Diseases*/genetics , Pancytopenia* , Hematologic Diseases*, Humans ; Syndrome ; Bone Marrow Failure Disorders ; Transcription Factors/genetics ; Phenotype ; MDS1 and EVI1 Complex Locus Protein/genetics

المؤلفون: Kumar C; Neonatology Unit, Department of Pediatrics, Ankura Hospital for Women and Children, Banjara Hills, Hyderabad, Telangana, India. drchanchalkumarkem@gmail.com., Anjani G; Pediatric Rheumatology & Immunology Unit, Department of Pediatrics, Ankura Hospital for Women and Children, Hyderabad, Telangana, India., Deshmukh NN; Neonatology Unit, Department of Pediatrics, Ankura Hospital for Women and Children, Banjara Hills, Hyderabad, Telangana, India., Pothala R; Neonatology Unit, Department of Pediatrics, Ankura Hospital for Women and Children, Banjara Hills, Hyderabad, Telangana, India., Bathina SP; Neonatology Unit, Department of Pediatrics, Ankura Hospital for Women and Children, Banjara Hills, Hyderabad, Telangana, India., Dodda D; Neonatology Unit, Department of Pediatrics, Ankura Hospital for Women and Children, Banjara Hills, Hyderabad, Telangana, India., Rao ES; Neonatology Unit, Department of Pediatrics, Ankura Hospital for Women and Children, Banjara Hills, Hyderabad, Telangana, India.

المصدر: Indian journal of pediatrics [Indian J Pediatr] 2023 Jan; Vol. 90 (1), pp. 98. Date of Electronic Publication: 2022 Nov 23.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Dr. K. C. Chaudhuri Foundation, co-published by Springer India Country of Publication: India NLM ID: 0417442 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0973-7693 (Electronic) Linking ISSN: 00195456 NLM ISO Abbreviation: Indian J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: COVID-19*, Infant, Newborn ; Humans ; SARS-CoV-2 ; Systemic Inflammatory Response Syndrome/diagnosis

المؤلفون: Maragal S; Division of Vegetable Crops, ICAR-Indian Institute of Horticultural Research, Bengaluru, India., Nagesh GC; Division of Vegetable Crops, ICAR-Indian Institute of Horticultural Research, Bengaluru, India., Reddy DCL; Division of Plant Molecular Biology and Biotechnology, ICAR-Indian Institute of Horticultural Research, Bengaluru, India., Rao ES; Division of Vegetable Crops, ICAR-Indian Institute of Horticultural Research, Bengaluru, India.

المصدر: 3 Biotech [3 Biotech] 2022 Feb; Vol. 12 (2), pp. 46. Date of Electronic Publication: 2022 Jan 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 101565857 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2190-572X (Print) Linking ISSN: 21905738 NLM ISO Abbreviation: 3 Biotech Subsets: PubMed not MEDLINE

المؤلفون: Taylor C; Department of Pediatrics, Division of Cardiology, Children's Hospital, Medical University of South Carolina, Charleston, South Carolina, USA., Rao ES; Department of Pediatrics, Division of Hematology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Pierre G; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Chronopoulou E; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Hornby B; Department of Physical Therapy, Kennedy Krieger Institute, Baltimore, Maryland, USA., Heyman A; Department of Nutrition, Kennedy Krieger Institute, Baltimore, Maryland, USA., Vernon HJ; Department of Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Jan; Vol. 45 (1), pp. 7-16. Date of Electronic Publication: 2021 Aug 15.

نوع المنشور: Journal Article; Review

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

مواضيع طبية MeSH: Barth Syndrome/*metabolism , Barth Syndrome/*pathology, Acyltransferases/genetics ; Barth Syndrome/genetics ; Barth Syndrome/therapy ; Cardiolipins/metabolism ; Cardiomyopathies/metabolism ; Cardiomyopathies/pathology ; Humans ; Mitochondrial Membranes/metabolism ; Muscular Diseases/metabolism ; Muscular Diseases/pathology ; Mutation ; Neutropenia/metabolism ; Neutropenia/pathology

المؤلفون: Heda S; Department of Pathology, Max Care Hospital, Warangal, Telangana, India., Karthik DK; Department of Radiology, Surya Diagnostics, Warangal, Telangana, India., Rao ES; Department of Neurosurgery, Srinivasa Pinnacle Hospital, Warangal, Telangana, India., Deshpande A; Department of Neurology, Vinayaka Neuro Multispeciality Clinic, Warangal, Telangana, India.

المصدر: BMJ case reports [BMJ Case Rep] 2018 Nov 01; Vol. 2018. Date of Electronic Publication: 2018 Nov 01.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

مواضيع طبية MeSH: Cranial Nerve Diseases/*pathology , Hypoglossal Nerve/*pathology , Hypoglossal Nerve Diseases/*pathology , Neurilemmoma/*pathology, Adult ; Cranial Nerve Diseases/etiology ; Diagnosis, Differential ; Dysarthria/diagnosis ; Dysarthria/etiology ; Female ; Humans ; Hypoglossal Nerve Diseases/complications ; Laryngoscopy/methods ; Magnetic Resonance Imaging/methods ; Neurilemmoma/complications ; Neurilemmoma/diagnostic imaging ; Neurilemmoma/surgery ; Tongue/pathology ; Tongue Diseases/pathology ; Treatment Outcome

المؤلفون: Rao ES; Children's Hospital Colorado, University of Colorado Hemophilia and Thrombosis Center, 12800 E 19th Ave, Mail Stop 8302, Aurora, CO, 80045, United States., Ng CJ; Children's Hospital Colorado, University of Colorado Hemophilia and Thrombosis Center, 12800 E 19th Ave, Mail Stop 8302, Aurora, CO, 80045, United States. Electronic address: christopher.ng@ucdenver.edu.

المصدر: Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis [Transfus Apher Sci] 2018 Aug; Vol. 57 (4), pp. 463-465. Date of Electronic Publication: 2018 Jul 29.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Pergamon Country of Publication: England NLM ID: 101095653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-0502 (Print) Linking ISSN: 14730502 NLM ISO Abbreviation: Transfus Apher Sci

مواضيع طبية MeSH: Blood Coagulation Tests/*methods , Diagnostic Tests, Routine/*methods , Genetic Testing/*methods, Humans ; von Willebrand Diseases