Zobrazeno 1 - 10
of 873 425
pro vyhledávání: '"ABNORMALITIES"'
Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.
Autor:
Previdi A; APHP.Centre-Université Paris Cité, Site Hôpital Cochin, Service de Médecine Génomique des Maladies de Système et d'Organe, Paris, France., Jordan P; APHP.Centre-Université Paris Cité, Site Hôpital Cochin, Service de Médecine Génomique des Maladies de Système et d'Organe, Paris, France., Egloff C; AP-HP.Nord-Université Paris Cité, Site Hôpital Louis Mourier, Service de Gynécologie Obstétrique, Colombes, France., Coussement A; APHP.Centre-Université Paris Cité, Site Hôpital Cochin, Service de Médecine Génomique des Maladies de Système et d'Organe, Paris, France., Ahmed-Eli S; APHP.Centre-Université Paris Cité, Site Hôpital Cochin, Service de Médecine Génomique des Maladies de Système et d'Organe, Paris, France., Tudal L; AP-HP.Nord-Université Paris Cité, Site Hôpital Louis Mourier, Service de Gynécologie Obstétrique, Colombes, France., Bienvenu T; APHP.Centre-Université Paris Cité, Site Hôpital Cochin, Service de Médecine Génomique des Maladies de Système et d'Organe, Paris, France., Picone O; AP-HP.Nord-Université Paris Cité, Site Hôpital Louis Mourier, Service de Gynécologie Obstétrique, Colombes, France., Dupont JM; APHP.Centre-Université Paris Cité, Site Hôpital Cochin, Service de Médecine Génomique des Maladies de Système et d'Organe, Paris, France.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 537-544. Date of Electronic Publication: 2024 Jul 16.
Autor:
Nakitanda AO; Centre for Pharmacoepidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden., Odsbu I; Centre for Pharmacoepidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.; Department of Chronic Diseases, Norwegian Institute of Public Health, Oslo, Norway., Cesta CE; Centre for Pharmacoepidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden., Pazzagli L; Clinical Epidemiology Division, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden., Pasternak B; Clinical Epidemiology Division, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden.; Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark.
Publikováno v:
JAMA network open [JAMA Netw Open] 2024 Nov 04; Vol. 7 (11), pp. e2445055. Date of Electronic Publication: 2024 Nov 04.
Autor:
Fedele F; Department of Clinical Sciences and Community Health, Università Degli Studi di Milano, Milan, Italy.; Department of Obstetrics and Gynecology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Bulfoni A; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090, Pieve Emanuele, Milan, Italy., Parazzini F; Department of Clinical Sciences and Community Health, Università Degli Studi di Milano, Milan, Italy.; Department of Obstetrics and Gynecology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Levi-Setti PE; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090, Pieve Emanuele, Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Busnelli A; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090, Pieve Emanuele, Milan, Italy. andrea.busnelli@hunimed.eu.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy. andrea.busnelli@hunimed.eu.
Publikováno v:
Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2024 Nov; Vol. 310 (5), pp. 2315-2332. Date of Electronic Publication: 2024 Sep 04.
Autor:
Kuroda Y; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan., Uehara T; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan., Enomoto Y; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan., Naruto T; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan., Matsumura N; Division of Ophthalmology, Kanagawa Children's Medical Center, Yokohama, Japan., Kurosawa K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63799. Date of Electronic Publication: 2024 Jun 23.
Autor:
Batkova M; Department of Stomatology, 2nd Faculty of Medicine, Charles University, Motol University Hospital, Prague, Czech Republic., Havlovicova M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University, Motol University Hospital, Prague, Czech Republic., Nocar A; Department of Stomatology, 2nd Faculty of Medicine, Charles University, Motol University Hospital, Prague, Czech Republic., Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Macek M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University, Motol University Hospital, Prague, Czech Republic., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. petra.liskova@lf1.cuni.cz.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. petra.liskova@lf1.cuni.cz., Dostalova T; Department of Stomatology, 2nd Faculty of Medicine, Charles University, Motol University Hospital, Prague, Czech Republic. tatjana.dostalova@fnmotol.cz.
Publikováno v:
BMC oral health [BMC Oral Health] 2024 Oct 22; Vol. 24 (1), pp. 1264. Date of Electronic Publication: 2024 Oct 22.
Autor:
Burrill N; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA., Crane H; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA., Khalek N; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Soni S; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Wild KT; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Skraban C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., McManus M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Szigety K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Oliver ER; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.; Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Partridge E; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Pediatric General, Thoracic and Fetal Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Agarwal S; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Fisher A; Variantyx, Inc., Framingham, Massachusetts, USA., Wang J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Moldenhauer JS; Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.; Department of Surgery, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63719. Date of Electronic Publication: 2024 May 24.
Autor:
Watanabe N; Department of Pediatric Cardiothoracic Surgery, Stanford University, Palo Alto, CA (N.W., A.H., T.N.)., Hapak A; Department of Pediatric Cardiothoracic Surgery, Stanford University, Palo Alto, CA (N.W., A.H., T.N.)., Nasirov T; Department of Pediatric Cardiothoracic Surgery, Stanford University, Palo Alto, CA (N.W., A.H., T.N.).
Publikováno v:
Circulation. Cardiovascular imaging [Circ Cardiovasc Imaging] 2024 Oct; Vol. 17 (10), pp. e016355. Date of Electronic Publication: 2024 Jul 11.
Autor:
Atwani R; Department of Obstetrics and Gynecology, Macon and Joan Brock Virginia Health Sciences at Old Dominion University, Norfolk, VA (Atwani, Saade, Kawakita). Electronic address: rulaatwani93@hotmail.com., Aziz M; Department of Obstetrics and Gynecology, Allegheny Health Network, Pittsburgh, PA (Aziz)., Saade G; Department of Obstetrics and Gynecology, Macon and Joan Brock Virginia Health Sciences at Old Dominion University, Norfolk, VA (Atwani, Saade, Kawakita)., Reddy U; Department of Obstetrics and Gynecology, Columbia University, New York, NY (Reddy)., Kawakita T; Department of Obstetrics and Gynecology, Macon and Joan Brock Virginia Health Sciences at Old Dominion University, Norfolk, VA (Atwani, Saade, Kawakita).
Publikováno v:
American journal of obstetrics & gynecology MFM [Am J Obstet Gynecol MFM] 2024 Oct; Vol. 6 (10), pp. 101440. Date of Electronic Publication: 2024 Jul 31.
Autor:
Prada E; Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.; Ospedale Sant'Anna, ASST Lariana, Como, Italy., Meossi C; Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy. camimeossi@yahoo.it.; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy. camimeossi@yahoo.it., Marafon DP; Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Grilli F; Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Scuvera G; Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Marchisio PG; Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.; Università degli Studi di Milano, Milano, Italy., Agostoni CV; Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.; Università degli Studi di Milano, Milano, Italy., Natacci F; Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy., Milani D; Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
Publikováno v:
Italian journal of pediatrics [Ital J Pediatr] 2024 Sep 19; Vol. 50 (1), pp. 187. Date of Electronic Publication: 2024 Sep 19.
Autor:
Zhang W; Department of Ultrasound, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, China., Xu H; Department of Ultrasound, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, China., Zhang J; Department of Ultrasound, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, China. Electronic address: 347235272@qq.com., Zhou S; Department of Ultrasound, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, China. Electronic address: 1319936045@qq.com.
Publikováno v:
Asian journal of surgery [Asian J Surg] 2024 Sep; Vol. 47 (9), pp. 4009-4010. Date of Electronic Publication: 2024 May 07.