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Wyświetlanie 1-7 z 7
Tytuł :
Evolving sequence mutations in the Middle East Respiratory Syndrome Coronavirus (MERS-CoV).
Autorzy :
AlBalwi MA; Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address: .
Khan A; The University of Sydney, Sydney, Austria.
AlDrees M; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Gk U; Integrated Gulf Biosytems, Riyadh, Saudi Arabia.
Manie B; Integrated Gulf Biosytems, Riyadh, Saudi Arabia.
Arabi Y; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; Department of Intensive Care Unit, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Alabdulkareem I; Health Sciences Research Center, King Abdullah Bin Abdulaziz University Hospital, Prince Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.
AlJohani S; Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Alghoribi M; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
AlAskar A; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
AlAjlan A; Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Hajeer A; Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
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Źródło :
Journal of infection and public health [J Infect Public Health] 2020 Oct; Vol. 13 (10), pp. 1544-1550. Date of Electronic Publication: 2020 Jul 01.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Coronavirus Infections/*virology
Middle East Respiratory Syndrome Coronavirus/*genetics
RNA, Viral/*analysis
Adult ; Aged ; Amino Acids/genetics ; Female ; Humans ; Male ; Middle Aged ; Nucleocapsid Proteins/genetics ; Phylogeny ; Saudi Arabia ; Virulence/genetics ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Autorzy :
Bertoli-Avella AM; CENTOGENE AG, Rostock, Germany.
Beetz C; CENTOGENE AG, Rostock, Germany.
Ameziane N; CENTOGENE AG, Rostock, Germany.
Rocha ME; CENTOGENE AG, Rostock, Germany.
Guatibonza P; CENTOGENE AG, Rostock, Germany.
Pereira C; CENTOGENE AG, Rostock, Germany.
Calvo M; CENTOGENE AG, Rostock, Germany.
Herrera-Ordonez N; CENTOGENE AG, Rostock, Germany.
Segura-Castel M; CENTOGENE AG, Rostock, Germany.
Diego-Alvarez D; CENTOGENE AG, Rostock, Germany.
Zawada M; CENTOGENE AG, Rostock, Germany.
Kandaswamy KK; CENTOGENE AG, Rostock, Germany.
Werber M; CENTOGENE AG, Rostock, Germany.
Paknia O; CENTOGENE AG, Rostock, Germany.
Zielske S; CENTOGENE AG, Rostock, Germany.
Ugrinovski D; CENTOGENE AG, Rostock, Germany.
Warnack G; CENTOGENE AG, Rostock, Germany.
Kampe K; CENTOGENE AG, Rostock, Germany.
Iurașcu MI; CENTOGENE AG, Rostock, Germany.
Cozma C; CENTOGENE AG, Rostock, Germany.
Vogel F; CENTOGENE AG, Rostock, Germany.
Alhashem A; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Hertecant J; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
Al-Shamsi AM; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
Alswaid AF; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Eyaid W; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
Al Mutairi F; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
Alfares A; Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Albalwi MA; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
Al-Sannaa NA; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia.
Reardon W; Clinical Genetics, Children's Health Ireland (CHI), Crumlin, Ireland.
Alanay Y; Pediatric Genetics Division, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
Rolfs A; CENTOGENE AG, Rostock, Germany.; University of Rostock, Rostock, Germany.
Bauer P; CENTOGENE AG, Rostock, Germany. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Aug 28. Date of Electronic Publication: 2020 Aug 28.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.
Autorzy :
Al Ghamdi MA; Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.
Al-Qattan MM; Department of Surgery, King Saud University, Riyadh, Saudi Arabia.
Hadadi A; Department of Plastic and Reconstractive Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Alabdulrahman A; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Almuzzaini B; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Alatwi N; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
AlBalwi MA; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2020 Mar; Vol. 63 (3), pp. 103738. Date of Electronic Publication: 2019 Aug 14.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Limb Deformities, Congenital/*genetics
Proto-Oncogene Proteins/*genetics
Rare Diseases/*genetics
Wnt Proteins/*genetics
Codon, Nonsense ; Female ; Homozygote ; Humans ; Limb Deformities, Congenital/classification ; Limb Deformities, Congenital/diagnostic imaging ; Limb Deformities, Congenital/pathology ; Male ; Mutation, Missense ; Pedigree ; Phenotype ; RNA Splicing
SCR Disease Name :
Split-Hand-Foot Malformation 6
Czasopismo naukowe
Tytuł :
Atypical influenza A(H1N1)pdm09 strains caused an influenza virus outbreak in Saudi Arabia during the 2009-2011 pandemic season.
Autorzy :
Khan A; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
AlBalwi MA; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Department of Pathology & Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address: .
AlAbdulkareem I; Intramural health sciences research, Princess Nourah Bint Abdulrahman university, Riyadh, Saudi Arabia.
AlMasoud A; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
AlAsiri A; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
AlHarbi W; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
AlSehile F; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
El-Saed A; Department of Infection Prevention & Control Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Balkhy HH; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; Department of Infection Prevention & Control Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
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Źródło :
Journal of infection and public health [J Infect Public Health] 2019 Jul - Aug; Vol. 12 (4), pp. 557-567. Date of Electronic Publication: 2019 Feb 21.
Typ publikacji :
Journal Article
MeSH Terms :
Disease Outbreaks*
Evolution, Molecular*
Influenza A Virus, H1N1 Subtype/*genetics
Influenza, Human/*epidemiology
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bayes Theorem ; Child ; Child, Preschool ; Female ; Genetic Variation ; Genotype ; Humans ; Infant ; Influenza A Virus, H1N1 Subtype/isolation & purification ; Influenza, Human/virology ; Male ; Middle Aged ; Nasopharynx/virology ; Phylogeny ; Point Mutation ; RNA, Viral/genetics ; Saudi Arabia/epidemiology ; Young Adult
Czasopismo naukowe
Tytuł :
Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
Autorzy :
Al-Qattan MM; Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia.; Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Hadadi A; King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, Saudi Arabia.
Al-Thunayan AM; Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Eldali AA; Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
AlBalwi MA; King Saud bin Abdulaziz University for Health Sciences, College of Medicine, Riyadh, Saudi Arabia. .; Department of Pathology & Laboratory Medicine, MC1122, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, P.O Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia. .; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2018 Sep 04; Vol. 19 (1), pp. 158. Date of Electronic Publication: 2018 Sep 04.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Class I Phosphatidylinositol 3-Kinases/*genetics
Growth Disorders/*genetics
Mutation/*genetics
Upper Extremity/*growth & development
Upper Extremity Deformities, Congenital/*genetics
Abnormalities, Multiple/genetics ; Child ; Genetic Association Studies ; Humans ; Infant ; Lipoma/genetics ; Male ; Phenotype ; Syndrome
Czasopismo naukowe
Tytuł :
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Autorzy :
Wang Z; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.; McKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China.
Iida A; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Nishiguchi KM; Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
Fujita K; Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
Nakazawa T; Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.; Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.; Department of Opthalmology, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.
Alswaid A; Department of Pediatrics, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, 22490, Saudi Arabia.
Albalwi MA; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, 22490, Saudi Arabia.
Kim OH; Department of Radiology, Woorisoa Children's Hospital, Seoul, 08291, Republic of Korea.
Cho TJ; Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
Lim GY; Department of Radiology, St. Mary's Hospital, The Catholic University, Seoul, 07345, Republic of Korea.
Isidor B; CHU Nantes, Service de Génétique Médicale and INSERM, UMR-S 957, Nantes, 44093, France.
David A; CHU Nantes, Service de Génétique Médicale and INSERM, UMR-S 957, Nantes, 44093, France.
Rustad CF; Department of Medical Genetics, Section for Clinical Genetics, Oslo University Hospital, Oslo, 0424, Norway.
Merckoll E; Department of Radiology, Oslo University Hospital, Oslo, 0424, Norway.
Westvik J; Department of Radiology, Oslo University Hospital, Oslo, 0424, Norway.
Stattin EL; Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, 90187, Sweden.
Grigelioniene G; Department of Clinical Genetics and Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, 17176, Sweden.
Kou I; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
Nakajima M; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
Ohashi H; Division of Medical Genetics, Saitama Children's Medical Center, Saitama, 339-8551, Japan.
Smithson S; Department of Clinical Genetics, St. Michaels Hospital, Bristol, BS2 8EG, United Kingdom.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
Nishimura G; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, 183-8561, Japan.
Ikegawa S; Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.
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Źródło :
PloS one [PLoS One] 2016 Mar 14; Vol. 11 (3), pp. e0150555. Date of Electronic Publication: 2016 Mar 14 (Print Publication: 2016).
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Genetic Diseases, Inborn/*genetics
Osteochondrodysplasias/*genetics
Proteins/*genetics
Adolescent ; Cartilage/metabolism ; Cartilage/pathology ; Cell Differentiation/genetics ; Child ; Child, Preschool ; Cytoskeletal Proteins ; Female ; Gene Expression Regulation ; Genetic Diseases, Inborn/diagnostic imaging ; Genetic Diseases, Inborn/metabolism ; Humans ; Male ; Osteochondrodysplasias/diagnostic imaging ; Osteochondrodysplasias/metabolism ; Phenotype ; Proteins/metabolism ; Radiography ; Retina/metabolism ; Retina/pathology ; Young Adult
SCR Disease Name :
Strudwick syndrome
Czasopismo naukowe
Tytuł :
Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.
Autorzy :
Ababneh FK; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, Saudi Arabia.
AlSwaid A
Youssef T
Al Azzawi M
Crosby A
AlBalwi MA
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Źródło :
American journal of medical genetics. Part A 2013 Dec; Vol. 161A (12), pp. 3155-60. Date of Electronic Publication: 2013 Aug 16.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Abnormalities, Multiple/*genetics
Cleft Palate/*genetics
Exophthalmos/*genetics
Extracellular Matrix Proteins/*genetics
Microcephaly/*genetics
Osteosclerosis/*genetics
Abnormalities, Multiple/etiology ; Abnormalities, Multiple/mortality ; Abnormalities, Multiple/physiopathology ; Bone Diseases, Developmental/genetics ; Casein Kinase I ; Cleft Palate/etiology ; Cleft Palate/mortality ; Cleft Palate/physiopathology ; Exophthalmos/etiology ; Exophthalmos/mortality ; Exophthalmos/physiopathology ; Gene Deletion ; Humans ; Infant, Newborn ; Male ; Microcephaly/etiology ; Microcephaly/mortality ; Microcephaly/physiopathology ; Mutation ; Osteosclerosis/complications ; Osteosclerosis/etiology ; Osteosclerosis/mortality ; Osteosclerosis/physiopathology
SCR Disease Name :
Raine syndrome
Czasopismo naukowe
    Wyświetlanie 1-7 z 7

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