المؤلفون: Frances Tiffany Cava Morden, Bao Xin Liang, Linda Nguyen, Enrique Carrazana, Arash Ghaffari-Rafi, Kore Kai Liow

المصدر: Epilepsy & Behavior Reports, Vol 27, Iss , Pp 100688- (2024)

مصطلحات موضوعية: Rhombencephalosynapsis, Cerebello-trigeminal-dermal dysplasia, Gomez-Lopez-Hernandez syndrome, Cerebellar dysfunction, First-time onset seizures, Adult, Neurology. Diseases of the nervous system, RC346-429, Neurophysiology and neuropsychology, QP351-495

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589986424000455; https://doaj.org/toc/2589-9864

URL الوصول: https://doaj.org/article/7dec3d23b7f14bd5aa8708bac1dc7628

المؤلفون: Lozano Callejas, Maria Valeria, Bautista, Samuel, Neira Angarita, Darwin Santiago

المصدر: Basic Health sciencies journal; Vol. 2 No. 3 (2024); 131-139 ; Revista Ciencias Básicas en Salud; Vol. 2 Núm. 3 (2024); 131-139 ; 2981-5800

مصطلحات موضوعية: romboencefalosinapsis, vermis cerebeloso, diagnóstico prenatal, malformación congénita, estenosis, feto, Rhombencephalosynapsis, cerebellar vermis, prenatal diagnosis, congenital malformation, stenosis, fetus

وصف الملف: application/pdf

Relation: https://ojs.unipamplona.edu.co/index.php/cbs/article/view/3104/7046; https://ojs.unipamplona.edu.co/index.php/cbs/article/view/3104

الاتاحة: https://ojs.unipamplona.edu.co/index.php/cbs/article/view/3104
https://doi.org/10.24054/cbs.v2i3.3104

المؤلفون: Pomar, L., Rieder, W., Dubruc, E., Giuliano, F., Atallah, I., Lebon, S., Vial, Y.

المصدر: Fetal diagnosis and therapy, vol. 50, no. 2, pp. 92-97

مصطلحات موضوعية: Female, Pregnancy, Humans, Micrognathism/diagnostic imaging, Cerebellum, Craniofacial Abnormalities/diagnostic imaging, Craniofacial Abnormalities/genetics, Alopecia/diagnosis, Alopecia/genetics, Prenatal Diagnosis, Gómez-López-Hernández syndrome, Neurosonography, Rhombencephalosynapsis, Ventriculomegaly

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/37062278; info:eu-repo/semantics/altIdentifier/eissn/1421-9964; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D371237FF86F4; https://serval.unil.ch/notice/serval:BIB_D371237FF86F; https://serval.unil.ch/resource/serval:BIB_D371237FF86F.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_D371237FF86F
https://doi.org/10.1159/000530643
https://serval.unil.ch/resource/serval:BIB_D371237FF86F.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D371237FF86F4

المؤلفون: Nathalia Tafur Gómez, William Prada Mancilla, Carlos Hernán Roa Mejía, Juan Carlos Aldana Leal

المصدر: Radiology Case Reports, Vol 15, Iss 7, Pp 867-870 (2020)

مصطلحات موضوعية: Rhombencephalosynapsis, VACTERL, MRI, Cerebellar abnormalities, Malformation, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043320301230; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/6f0fe0af547746e499577e5dde9f1dd7

المؤلفون: Myriam Vezain, Matthieu Lecuyer, Marina Rubio, Valérie Dupé, Leslie Ratié, Véronique David, Laurent Pasquier, Sylvie Odent, Sophie Coutant, Isabelle Tournier, Laetitia Trestard, Homa Adle-Biassette, Denis Vivien, Thierry Frébourg, Bruno J Gonzalez, Annie Laquerrière, Pascale Saugier-Veber

المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-23 (2018)

مصطلحات موضوعية: ADGRL2, LPHN2, Adhesion-GPCR, Alpha-latrotoxin, Human extreme microcephaly, Rhombencephalosynapsis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-018-0610-5; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/f55bf870c96c4ca18c71d71d3650966f

المؤلفون: Patrício, M, Conceição, C

المساهمون: Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE

مصطلحات موضوعية: MRI, Rhombencephalosynapsis, HDE ORL, HDE NRAD

وصف الملف: application/pdf

Relation: IN: Eurorad – Radiological Case Database, 09 Janeiro 2011(On-line case report)

الاتاحة: http://hdl.handle.net/10400.17/966

المؤلفون: Alexandre Kotetishvili, Bakur Kotetishvili, Malkhaz Makashvili, Michael Okujava, Tamar Kopadze

المصدر: Intractable & Rare Diseases Research. 2018, 7(3):191

المؤلفون: Krajden Haratz, K., Oliveira Szejnfeld, P., Govindaswamy, M., Leibovitz, Z., Gindes, L., Severino, M., Rossi, A., Paladini, D., Garcia Rodriguez, R., Ben-Sira, L., Borkowski Tillman, T., Gupta, R., Lotem, G., Raz, N., Hamamoto, TENK, Kidron, D., Arad, A., Birnbaum, R., Brussilov, M., Pomar, L., Vial, Y., Leventer, R.J., McGillivray, G., Fink, M., Krzeszowski, W., Fernandes Moron, A., Lev, D., Tamarkin, M., Shalev, J., Har Toov, J., Lerman-Sagie, T., Malinger, G.

المصدر: Ultrasound in obstetrics & gynecology, vol. 58, no. 6, pp. 864-874

مصطلحات موضوعية: aqueductal stenosis, cerebellum, fetus, prenatal diagnosis, rhombencephalosynapsis, vermis

Relation: info:eu-repo/semantics/altIdentifier/pmid/33942916; info:eu-repo/semantics/altIdentifier/eissn/1469-0705; https://serval.unil.ch/notice/serval:BIB_2318BC2936D1

الاتاحة: https://serval.unil.ch/notice/serval:BIB_2318BC2936D1
https://doi.org/10.1002/uog.23660

المؤلفون: Bekiesińska-Figatowska, Monika, Jurkiewicz, Elżbieta, Szkudlińska-Pawlak, Sylwia, Malczyk, Katarzyna, Nowak, Katarzyna

مصطلحات موضوعية: congenital anomalies, rhombencephalosynapsis (RES), magnetic resonance imaging (MRI)

Relation: http://ruj.uj.edu.pl/xmlui/handle/item/43977

الاتاحة: http://ruj.uj.edu.pl/xmlui/handle/item/43977
https://doi.org/10.12659/PJR.883372

المؤلفون: Jasper J. Saris, Laura Vandervore, Irenaeus F.M. de Coo, Maarten H. Lequin, Marjolein H G Dremmen, Martina Wilke, Leontine van Unen, G. M. S. Mancini, Anna Jansen, A. Jeannette M. Hoogeboom, Marjon van Slegtenhorst, Carsten R. Lincke, Rachel Schot

المساهمون: Clinical Genetics, Neurology, Radiology & Nuclear Medicine, Clinical sciences, Faculty of Medicine and Pharmacy, Neurogenetics

المصدر: European Journal of Medical Genetics, 61(12), 783. Elsevier Masson SAS
European Journal of Medical Genetics, 61(12), 783-789. Elsevier Masson

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Microcephaly, Cerebellum, Adolescent, Cerebellar dysplasia, Corpus callosum, Germline mosaicism, Biology, ZIC1, Frameshift mutation, Craniosynostosis, Rhombencephalosynapsis, Craniosynostoses, 03 medical and health sciences, Journal Article, Genetics, medicine, Humans, Genetics(clinical), Neural Tube Defects, Child, Frameshift Mutation, Agenesis of the corpus callosum, Genetics (clinical), Tethered cord, Infant, General Medicine, medicine.disease, Malformations of Cortical Development, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Scoliosis, Child, Preschool, Female, Agenesis of Corpus Callosum, Transcription Factors

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b8cb68815376959bf291090f71c35ed
https://doi.org/10.1016/j.ejmg.2018.10.018

المؤلفون: Giuseppe Micali, Ignacio Pascual-Castroviejo, Stefano Catanzaro, Concetta Pirrone, Federica Sullo, Andrea D. Praticò, Antonio Zanghì, Agata Polizzi, Martino Ruggieri, Carmelo Schepis, Agata Fiumara, Selene Mantegna, Filippo Greco, Francesco Lacarrubba, Pierluigi Smilari

المصدر: Journal of Pediatric Neurology. 16:362-368

مصطلحات موضوعية: 0301 basic medicine, Ataxia, Gómez-López-Hernández, 030105 genetics & heredity, Pediatrics, Short stature, Craniosynostosis, 03 medical and health sciences, 0302 clinical medicine, cerebellotrigeminal dermal dysplasia, Gomez Lopez Hernandez syndrome, medicine, alopecia, rhombencephalosynapsis, trigeminal anesthesia, Pediatrics, Perinatology and Child Health, Neurology (clinical), Trigeminal nerve, business.industry, Anatomy, Perinatology and Child Health, medicine.disease, medicine.anatomical_structure, Dysplasia, Scalp, medicine.symptom, business, 030217 neurology & neurosurgery, Congenital disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e295ed6d0d800d897fec21a3ad897ac9
https://doi.org/10.1055/s-0038-1667021

المؤلفون: Anita Choudhary, Priyanka Minocha, Sadasivan Sitaraman

المصدر: Intractable & Rare Diseases Research. 2017, 6(1):58

المؤلفون: Mak, C.C.Y., Doherty, D., Lin, A.E., Vegas, N., Cho, M.T., Viot, G., Dimartino, C., Weisfeld-Adams, J.D., Lessel, D., Joss, S., Li, C., Gonzaga-Jauregui, C., Zarate, Y.A., Ehmke, N., Horn, D., Troyer, C., Kant, S.G., Lee, Y., Ishak, G.E., Leung, G., Barone Pritchard, A., Yang, S., Bend, E.G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M.G., Martin, P.M., Apple, B., Millan, F., Puk, O., Hoffer, M.J.V., Henderson, L.B., McGowan, R., Wentzensen, I.M., Pei, S., Zahir, F.R., Yu, M., Gibson, W.T., Seman, A., Steeves, M., Murrell, J.R., Luettgen, S., Francisco, E., Strom, T.M., Amlie-Wolf, L., Kaindl, A.M., Wilson, W.G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L.E.L.M., Radtke, K., Chelly, J., Zackai, E., Friedman, J.M., Bamshad, M.J., Nickerson, D.A., Reid, R.R., Devriendt, K., Chae, J.H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T.Y., Orenstein, N., Dobyns, W.B., Shieh, J.T., Choi, M., Waggoner, D., Gripp, K.W., Parker, M.J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T.L., Amiel, J., Chung, B.H.Y., Gordon, C.T.

المصدر: Brain 143, 55-68 (2020)

مصطلحات موضوعية: Mn1, Mctt Syndrome, Craniofacial Development, Intellectual Disability, Rhombencephalosynapsis

Relation: info:eu-repo/semantics/altIdentifier/pmid/31834374; info:eu-repo/semantics/altIdentifier/wos/WOS:000522638800016; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altId

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=57633
https://doi.org/10.1093/brain/awz379

المؤلفون: Géraldine Viot, Sara Halbach, Sandra Yang, William T. Gibson, Megan T. Cho, Sabine Luettgen, Pierre-Marie Martin, Karen W. Gripp, Christopher T. Gordon, Michael J. Bamshad, Jonas Denecke, Benjamin Apple, Thierry Bienvenu, William B. Dobyns, Elizabeth Francisco, Jill R. Murrell, Deborah A. Nickerson, Nadja Ehmke, Angela E. Lin, Kelly Radtke, Lisenka E.L.M. Vissers, Shelagh Joss, Farah R. Zahir, Louise Amlie-Wolf, Francisca Millan, Joan M. Stoler, Michael Parker, Youngha Lee, Carey McDougall, Denise Horn, Ruth McGowan, Elaine H. Zackai, Nicolas Lebrun, Ingrid M. Wentzensen, Zöe Powis, Oliver Puk, Nancy Vegas, Dan Doherty, Noa Lev-El, Amanda Barone Pritchard, Joseph T. Shieh, Francesca Filippini, Mariëtte J.V. Hoffer, Russell R. Reid, Valérie Cormier-Daire, Murim Choi, Michele G. Mehaffey, Stanislas Lyonnet, Jan M. Friedman, Sarina G. Kant, Yuri A. Zarate, David Viskochil, Gordon K.C. Leung, Angela M. Kaindl, Steven L.C. Pei, Christopher C.Y. Mak, Clémantine Dimartino, Koenraad Devriendt, Tiong Yang Tan, Mullin H.C. Yu, Chumei Li, Brian H.Y. Chung, Tim M. Strom, Lindsay B. Henderson, Elliot S. Stolerman, Trevor L Hoffman, Lina Basel-Salmon, Davor Lessel, Chelsea Roadhouse, Gisele E. Ishak, Caitlin Troyer, Jong-Hee Chae, Claudia Gonzaga-Jauregui, Ann Seman, Naama Orenstein, Marcie A. Steeves, Eric G. Bend, James D. Weisfeld-Adams, Jamel Chelly, William G. Wilson, Jeanne Amiel, Darrel Waggoner

المصدر: Brain, 143, 55-68. OXFORD UNIV PRESS
Brain, 143, 1, pp. 55-68
Brain, 143, 55-68
Brain

مصطلحات موضوعية: 0301 basic medicine, Proband, Biology, 03 medical and health sciences, Exon, 0302 clinical medicine, Intellectual disability, medicine, Craniofacial, Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MN1, rhombencephalosynapsis, Original Articles, Perisylvian polymicrogyria, medicine.disease, craniofacial development, MCTT syndrome, 030104 developmental biology, medicine.anatomical_structure, intellectual disability, Cerebellar vermis, Trigeminal artery, Neurology (clinical), Haploinsufficiency, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ec397c293d381da181f748c538b1db
https://academic.oup.com/brain/article/143/1/55/5675541

المؤلفون: Vandervore, Laura V., Schot, Rachel, Hoogeboom, A. Jeannette M., Lincke, Carsten, de Coo, Irenaeus F., Lequin, Maarten H., Dremmen, Marjolein, van Unen, Leontine M.A., Saris, Jasper J., Jansen, Anna C., van Slegtenhorst, Marjon A., Wilke, Martina, Mancini, Grazia M.S.

المساهمون: Researchgr. Systems Radiology, MS Radiologie, Circulatory Health

مصطلحات موضوعية: Cerebellum, Corpus callosum, Microcephaly, Rhombencephalosynapsis, Tethered cord, ZIC1, Genetics, Genetics(clinical)

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/374260

الاتاحة: https://dspace.library.uu.nl/handle/1874/374260

المؤلفون: Gálvez V., Camila, Huete, Isidro, Hernández, Marta

المصدر: Revista chilena de pediatría, Volume: 89, Issue: 1, Pages: 92-97, Published: FEB 2018

مصطلحات موضوعية: romboencefalosinapsis, anestesia trigeminal, trigeminal anaesthesia, Cerebello-trigeminal-dermal dysplasia, síndrome neurocutáneo, Displasia cerebelo-trigémino-dermal, rhombencephalosynapsis, neurocutaneous disorder, alopecia

وصف الملف: text/html

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______614::ce099a03db9501f7b144901c6012ce8e
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062018000100092&lng=en&tlng=en

المؤلفون: Vezain, Myriam, Lecuyer, Matthieu, Rubio, Marina, Dupé, Valérie, Ratié, Leslie, David, Véronique, Pasquier, Laurent, Odent, Sylvie, Coutant, Sophie, Tournier, Isabelle, Trestard, Laetitia, Adle-Biassette, Homa, Vivien, Denis, Frébourg, Thierry, Gonzalez, Bruno J, Laquerrière, Annie, Saugier-Veber, Pascale

المساهمون: Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie et imagerie des troubles neurologiques (PhIND), Université de Caen Normandie (UNICAEN), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Pontchaillou [Rennes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), European Regional Development Fund, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 2018, 6 (1), pp.109. ⟨10.1186/s40478-018-0610-5⟩
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-23 (2018)
Acta Neuropathologica Communications, 2018, 6 (1), pp.109. ⟨10.1186/s40478-018-0610-5⟩

مصطلحات موضوعية: Adult, Male, Adhesion-GPCR, Human extreme microcephaly, DNA Mutational Analysis, Gestational Age, Mice, Transgenic, Chick Embryo, lcsh:RC346-429, Receptors, G-Protein-Coupled, Mice, Rhombencephalosynapsis, Fetus, Animals, Humans, lcsh:Neurology. Diseases of the nervous system, Cells, Cultured, ADGRL2, [SDV.GEN]Life Sciences [q-bio]/Genetics, Research, Cell Cycle, Gene Expression Regulation, Developmental, Middle Aged, Embryo, Mammalian, Mice, Inbred C57BL, Rhombencephalon, Alpha-latrotoxin, Mutation, Microcephaly, Female, Neuroglia, LPHN2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::39a696be73b0a767a3c55641c1f5f6a2
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01903168/document

المؤلفون: М. В. Полянская, А. А. Демушкина, Ю. А. Бирюкова, А. А. Алиханов, M. V. Polyanskaya, A. A. Demushkina, Yu. A. Biryukova, A. A. Alikhanov

المصدر: Diagnostic radiology and radiotherapy ; Лучевая диагностика и терапия

مصطلحات موضوعية: rhombencephalosynapsis, cerebellum, ataxia, ромбэнцефалосинапсис, мозжечок, атаксия

Relation: https://openrepository.ru/article?id=387844

الاتاحة: https://openrepository.ru/article?id=387844
https://doi.org/10.22328/2079-5343-2018-9-2-28-33

المؤلفون: Sener, R. Nuri

مصطلحات موضوعية: Dandy-Walker malformation, rhombencephalosynapsis, posterior fossa malformations

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Journal of Neuroimaging; https://hdl.handle.net/11454/41271; https://doi.org/10.1111/j.1552-6569.2006.00066.x; 17; 355; 357

الاتاحة: https://hdl.handle.net/11454/41271
https://doi.org/10.1111/j.1552-6569.2006.00066.x

المؤلفون: Sergio Lopes V Iana, M. Matsumine

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: https://tspace.library.utoronto.ca/bitstream/1807/1980/1/ni04032.pdf.

مصطلحات موضوعية: Key Words, Rhombencephalosynapsis, Magnetic reso- nance imaging, Computed tomography, Cerebellum, Cer- ebellar malformations. Rhombencephalosynapsis, CT and MRI findings

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.523.1772

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.523.1772