Zobrazeno 1 - 10
of 366
pro vyhledávání: '"Acrocallosal Syndrome"'
Autor:
Subramanian S; Division of Pediatric Radiology, Department of Radiology, UPMC Children's Hospital of Pittsburgh, 4401 Penn Ave., Pittsburgh, PA, 15224, USA. drsubbusmc@yahoo.co.in., Soundara Rajan D; Division of Child Neurology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Gaesser J; Division of Child Neurology, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Wen-Ya Lo C; University of Pittsburgh, Pittsburgh, PA, USA., Panigrahy A; Division of Pediatric Radiology, Department of Radiology, UPMC Children's Hospital of Pittsburgh, 4401 Penn Ave., Pittsburgh, PA, 15224, USA.
Publikováno v:
Pediatric radiology [Pediatr Radiol] 2019 Sep; Vol. 49 (10), pp. 1368-1373. Date of Electronic Publication: 2019 Aug 09.
Autor:
Putoux A; Centre de Recherche en Neurosciences de Lyon, Équipe GENDEV, INSERM U1028, CNRS UMR 5292, Université Claude Bernard Lyon 1, Lyon, France.; Service de Génétique et Centre de Référence des Anomalies du Développement de la Région Auvergne-Rhône-Alpes, CHU de Lyon, France., Baas D; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U-1217, Lyon, France., Paschaki M; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U-1217, Lyon, France., Morlé L; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U-1217, Lyon, France., Maire C; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U-1217, Lyon, France., Attié-Bitach T; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Department of Histology-Embryology and Cytogenetics, Necker Hospital, AP-HP, Paris, France., Thomas S; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Sorbonne Paris Cité University, Imagine Institute, Paris, France., Durand B; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U-1217, Lyon, France.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2019 Mar 15; Vol. 28 (6), pp. 877-887.
Autor:
Asadollahi R; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Strauss JE; Institute of Molecular Life Sciences, University of Zurich, Zurich, Switzerland., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Beuing O; Institute of Neuroradiology, Otto-von-Guericke-University Magdeburg, Magdeburg, Germany., Edvardson S; Pediatric Neurology Unit, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel., Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Niedrist D; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Otte C; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Oneda B; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Boonsawat P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Azzarello-Burri S; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Bartholdi D; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Papik M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Zweier M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Haas C; Zurich Institute of Forensic Medicine, University of Zurich, Zurich, Switzerland., Ekici AB; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Baumer A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Boltshauser E; Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Nothnagel M; Cologne Center for Genomics, Department of Statistical Genetics and Bioinformatics, University of Cologne, Cologne, Germany., Schinzel A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Stoeckli ET; Institute of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2018 Feb; Vol. 26 (2), pp. 197-209. Date of Electronic Publication: 2018 Jan 10.
Autor:
Karaer K; aIntergen Genetic Diseases Diagnostic Center, Ankara bMedical Genetics Clinic, Women and Children Hospital, Mersin cRadiology Department, School Of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey dDepartment of Histology-Embryology and Cytogenetics, Necker-Enfants malades Hospital, AP-HP eParis Descartes - Sorbonne Paris Cité University, Imagine Institute fINSERM UMR 1163, Embryology and Genetics of Human Malformation, Paris, France., Yuksel Z, Ichkou A, Calisir C, Attié-Bitach T
Publikováno v:
Clinical dysmorphology [Clin Dysmorphol] 2015 Apr; Vol. 24 (2), pp. 61-4.
Autor:
Sepić-Grahovac D; Department of Neurology, Clinical Hospital Centre Rijeka, Rijeka, Croatia., Ruzić Barsić A, Ruzić K, Grahovac T, Dadić-Hero E
Publikováno v:
Psychiatria Danubina [Psychiatr Danub] 2010 Jun; Vol. 22 (2), pp. 282-5.
Autor:
Putoux A; INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France., Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-Bitach T
Publikováno v:
Journal of medical genetics [J Med Genet] 2012 Nov; Vol. 49 (11), pp. 713-20.
Autor:
Ramteke VV; Department of Medicine, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, India., Darole PA, Shaikh ZF, Padwal NJ, Agrawal B, Shrivastava MS, Kamath S
Publikováno v:
BMJ case reports [BMJ Case Rep] 2011 May 03; Vol. 2011. Date of Electronic Publication: 2011 May 03.
Autor:
Bender HA; Mount Sinai School of Medicine, Department of Neurology, USA. HeidiBender@aol.com, Zaroff CM, Karantzoulis S, Nakhutina L, MacAllister WS, Luciano D
Publikováno v:
The Journal of genetic psychology [J Genet Psychol] 2011 Jan-Mar; Vol. 172 (1), pp. 56-66.
Autor:
Mohanty HS; Department of Radiology, Hamdard Imaging Center, Hamdard Institute of Medical Sciences & Research, New Delhi, India., Shirodkar KK; Apollo Hospital, Bangalore, India., Sharma N; Department of Radiology, Hamdard Imaging Center, Hamdard Institute of Medical Sciences & Research, New Delhi, India., Bind MK; Apollo Hospital, Bangalore, India., Nandikoor S; Apollo Hospital, Bangalore, India.
Publikováno v:
Journal of clinical ultrasound : JCU [J Clin Ultrasound] 2019 Oct; Vol. 47 (8), pp. 497-500. Date of Electronic Publication: 2019 Jul 18.
Autor:
Chiappedi M; Rehabilitation Unit, Santa Maria alle Fonti Medical Center, Don Carlo Gnocchi ONLUS Foundation, Salice Terme (PV), Italy. mchiappedi@dongnocchi.it, Bejor M
Publikováno v:
Italian journal of pediatrics [Ital J Pediatr] 2010 Sep 17; Vol. 36, pp. 64. Date of Electronic Publication: 2010 Sep 17.