Zobrazeno 1 - 10
of 1 263
pro vyhledávání: '"Acrocallosal Syndrome"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
JAVIER, CHIARPENELLO, AGUSTÍN, FRESCO
Publikováno v:
Revista Médica de Rosario; May-Aug2024, Vol. 90 Issue 2, p86-92, 7p
Publikováno v:
Journal of Clinical Neonatology. Jan-Mar2015, Vol. 4 Issue 1, p51-53. 3p.
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:
Yuksel-Apak, Memnune1, Bögershausen, Nina2, Pawlik, Barbara2, Li, Yun2, Apak, Selcuk3, Uyguner, Oya1, Milz, Esther2, Nürnberg, Gudrun4, Karaman, Birsen1, Gülgören, Ayan5, Grzeschik, Karl-Heinz6, Nürnberg, Peter7, Kayserili, Hülya1, Wollnik, Bernd8
Publikováno v:
European Journal of Human Genetics. Jun2012, Vol. 20 Issue 6, p639-644. 6p. 1 Black and White Photograph, 1 Diagram, 2 Graphs.
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.
Publikováno v:
IP Indian Journal of Neurosciences. 8:282-285
The usual features of the acrocallosal syndrome (ACLS) are agenesis of the corpus callosum, mental retardation, prominent craniofacial deformities, and specific digital abnormalities. ACLS is a rare genetic disorder which may be autosomal recessive,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b2a227f2664f650102ea76e9270714f
https://doi.org/10.18231/j.ijn.2022.055
https://doi.org/10.18231/j.ijn.2022.055
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:
Koker SA; Divisions of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey., Hazan F; Medical Genetics, Dr. Behçet Uz Children's Hospital, İzmir, Turkey., Oymak Y; Divisions of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey., Soydan E; Divisions of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey., Karapınar TH; Divisions of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey., Ay Y; Divisions of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey., Demirağ B; Divisions of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey., Vergin RC; Divisions of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey.
Publikováno v:
Neurology India [Neurol India] 2019 Sep-Oct; Vol. 67 (5), pp. 1386-1387.