Zobrazeno 1 - 10
of 34 315
pro vyhledávání: '"dwarfism"'
Autor:
Gauthier LW; Department of Genetics, Clinical Genetics Unit, Centre de Référence Maladies Rares des Anomalies du Développement Sud-Est, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Bron, France., Gossez M; CIRI, Centre International de Recherche en Infectiologie, Univ Lyon, Inserm U1111, Université Claude Bernard-Lyon 1, CNRS, UMR5308, ENS Lyon, Lyon, France.; Immunology Laboratory, Hospices Civils de Lyon, Edouard Herriot Hospital, Lyon, France., Malcus C; Immunology Laboratory, Hospices Civils de Lyon, Edouard Herriot Hospital, Lyon, France., Viel S; Plateforme de Biothérapies et de production de MTI, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France., Monneret G; Immunology Laboratory, Hospices Civils de Lyon, Edouard Herriot Hospital, Lyon, France.; Equipe d'Accueil 7426, Pathophysiology of Injury-Induced Immunosuppression, Université Claude Bernard Lyon 1, Hospices Civils de Lyon - bioMérieux, Hôpital Edouard Herriot, Lyon, France., Bordonné R; Institut de Génétique Moléculaire de Montpellier, University of Montpellier, CNRS UMR5535, Montpellier, France., Pons L; Unité Fonctionnelle de Cytogénétique, Laboratoire de Biologie Médicale, Centre hospitalier de Valence, Valence, France., Cabet S; Pediatric and Fetal Imaging Department, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.; Institut NeuroMyoGène, CNRS UMR5292, INSERM U1028, Claude Bernard Lyon 1 University, Lyon, France., Delous M; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, Genetics of Neurodevelopment Team (GENDEV), Bron, France., Mazoyer S; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, Genetics of Neurodevelopment Team (GENDEV), Bron, France., Putoux A; Department of Genetics, Clinical Genetics Unit, Centre de Référence Maladies Rares des Anomalies du Développement Sud-Est, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Bron, France.; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, Genetics of Neurodevelopment Team (GENDEV), Bron, France., Edery P; Department of Genetics, Clinical Genetics Unit, Centre de Référence Maladies Rares des Anomalies du Développement Sud-Est, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Bron, France.; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, Genetics of Neurodevelopment Team (GENDEV), Bron, France.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Oct; Vol. 106 (4), pp. 476-482. Date of Electronic Publication: 2024 Jun 04.
Autor:
Eid AAM; Zagazig University, Zagazig, Egypt., Lebdah MA; Zagazig University, Zagazig, Egypt., Helal SS; Zagazig University, Zagazig, Egypt., Seadawy MG; Ministry of Defense, Cairo, Egypt., El-Gohary A; Kafrelsheikh University, Kafrelsheikh, Egypt., Mousa MR; Cairo University, Giza, Egypt., El-Deeb AH; Cairo University, Giza, Egypt.; King Salman International University, Ras Sudr, Egypt., Mohamed FF; Zagazig University, Zagazig, Egypt., ElBakrey RM; Zagazig University, Zagazig, Egypt.
Publikováno v:
Veterinary pathology [Vet Pathol] 2024 Sep; Vol. 61 (5), pp. 829-838. Date of Electronic Publication: 2024 May 07.
Autor:
Huang X; Department of Endocrinology, Genetics and Metabolism, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, Fujian, ;China., Chen H; Department of Endocrinology, Genetics and Metabolism, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, Fujian, ;China., Shangguan H; Department of Endocrinology, Genetics and Metabolism, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, Fujian, ;China., Wu W; Department of Endocrinology, Genetics and Metabolism, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, Fujian, ;China., Ai Z; Department of Endocrinology, Genetics and Metabolism, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, Fujian, ;China., Chen Z; Department of Endocrinology, Genetics and Metabolism, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, Fujian, ;China., Chen R; Department of Endocrinology, Genetics and Metabolism, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, Fujian, ;China.
Publikováno v:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Oct 07; Vol. 15, pp. 1363050. Date of Electronic Publication: 2024 Oct 07 (Print Publication: 2024).
Autor:
Akalın A; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Department of Pediatric Genetics, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Ayaz E; Department of Pediatric Radiology, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Soğukpınar M; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Avcı-Durmuşalioğlu E; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Ürel-Demir G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Yıldız AE; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Atik T; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Elcioglu NH; Department of Pediatric Genetics, Marmara University Faculty of Medicine, Istanbul, Turkey.; Department of Pediatric Genetics, Eastern Mediterranean University Medical School, Famagusta, Turkey., Eda Utine G; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Şimşek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63785. Date of Electronic Publication: 2024 Jun 11.
Autor:
Çetinkaya D; Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children's Hospital, Ankara, Turkey., Doğan Ari AB, Kiliç E
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2024 Oct 01; Vol. 33 (4), pp. 167-170. Date of Electronic Publication: 2024 Jun 17.
Autor:
Li Q; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Jiang S; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Lei K; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Han H; Center for Translational Medicine, Precision Medicine Institute, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Chen Y; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Lin W; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Xiong Q; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Qi X; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Gan X; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Sheng R; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Wang Y; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Zhang Y; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Ma J; Center for Translational Medicine, Precision Medicine Institute, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Li T; West China-Washington Mitochondria and Metabolism Center and Department of Anesthesiology, West China Hospital, Sichuan University, Chengdu, China., Lin S; Center for Translational Medicine, Precision Medicine Institute, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Zhou C; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Chen D; Otorhinolaryngology Hospital, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Yuan Q; State Key Laboratory of Oral Diseases and National Center for Stomatology and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 Sep 10; Vol. 134 (20). Date of Electronic Publication: 2024 Sep 10.
Autor:
Piwar H; Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, Medical University of Warsaw, Banacha 1 Str., 02-097 Warsaw, Poland., Ordak M; Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, Medical University of Warsaw, Banacha 1 Str., 02-097 Warsaw, Poland., Bujalska-Zadrozny M; Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, Medical University of Warsaw, Banacha 1 Str., 02-097 Warsaw, Poland.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Sep 07; Vol. 25 (17). Date of Electronic Publication: 2024 Sep 07.
Autor:
Wang Q; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Wang HY; Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, China., Wu SY; Intensive Care Unit, Children's Hospital of Soochow University, Suzhou, China., Wang XQ; Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, China., Wu HY; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Xie RR; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Wang FY; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Chen XL; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Chen LQ; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China., Lv HT; Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, China.; Department of Cardiology, Children's Hospital of Soochow University, Suzhou, China., Chen T; Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China. chenting888@suda.edu.cn.; Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University, Suzhou, China. chenting888@suda.edu.cn.; Department of Pediatrics, Kunshan Sixth People's Hospital, Suzhou, Jiangsu, China. chenting888@suda.edu.cn.
Publikováno v:
World journal of pediatrics : WJP [World J Pediatr] 2024 Sep; Vol. 20 (9), pp. 976-980. Date of Electronic Publication: 2024 Jul 30.
Autor:
Khan FU; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Khan H; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan., Ullah K; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Nawaz S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Department of Human Genetics-Precision Medicine Program, Sidra Medicine, Doha, Qatar., Abdullah; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Khan MJ; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Ahmed S; Institute of Biochemistry, University of Balochistan, Quetta, Pakistan., Ilyas M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ali A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ullah I; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Sohail A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Hussain S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Clinical and Molecular Metabolism Research Program (CAMM), Faculty of Medicine, University of Helsinki, Helsinki, Finland., Ahmad F; Department of Biochemistry, Women University Swabi, Swabi, Khyber Pakhtunkhwa, Pakistan., Faisal; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Sufyan R; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Hayat A; Department Biochemistry, Abdul Wali Khan University, Mardan, Khyber Pakhtunkhwa, Pakistan., Hanif T; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Bibi F; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Hayat M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ullah R; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Khan IU; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ali RH; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Department of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Teaching Hospital, Boston, Massachusetts, USA., Hasni MS; Institute of Biochemistry, University of Balochistan, Quetta, Pakistan., Ali H; Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan., Bilal M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Institute for Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, Tübingen, Germany., Peralta S; Institute for Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, Tübingen, Germany., Buchert R; Institute for Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, Tübingen, Germany., Zehri Z; Department of Gynecology, Civil Hospital Quetta, Quetta, Pakistan., Hassan G; Department of Biochemistry, Shah Abdul Latif University, Khairpur, Sindh, Pakistan., Liaqat K; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Zahid M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Shah K; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Department of Dermatology, Yale School of Medicine, Yale University, New Haven, Connecticut, USA., Mikitie O; Clinical and Molecular Metabolism Research Program (CAMM), Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Centre, Folkhälsan Institute of Genetics, Helsinki, Finland.; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Haack TB; Institute for Medical Genetics and Applied Genomics, Eberhard Karls University of Tübingen, Tübingen, Germany., Ji W; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Lakhani SA; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Sep; Vol. 106 (3), pp. 347-353. Date of Electronic Publication: 2024 May 22.
Autor:
Kwon D; Department of Biomedical Science and Engineering, Konkuk University, Seoul, 05029, Republic of Korea., Ahn J; Department of Biomedical Science and Engineering, Konkuk University, Seoul, 05029, Republic of Korea., Kim H; Department of Biomedical Science and Engineering, Konkuk University, Seoul, 05029, Republic of Korea., Kim H; Department of Biomedical Science and Engineering, Konkuk University, Seoul, 05029, Republic of Korea., Kim J; Department of Biomedical Science and Engineering, Konkuk University, Seoul, 05029, Republic of Korea., Wy S; Department of Biomedical Science and Engineering, Konkuk University, Seoul, 05029, Republic of Korea., Ko Y; Division of Biomedical Engineering, Hankuk University of Foreign Studies, Yongin, Gyeonggi-Do, 17035, Republic of Korea., Kim J; Department of Biomedical Science and Engineering, Konkuk University, Seoul, 05029, Republic of Korea. jbkim@konkuk.ac.kr.
Publikováno v:
BMC genomics [BMC Genomics] 2024 Aug 06; Vol. 25 (1), pp. 761. Date of Electronic Publication: 2024 Aug 06.