المؤلفون: Marina Braun, Annika Lehmbecker, Deborah Eikelberg, Maren Hellige, Andreas Beineke, Julia Metzger, Ottmar Distl

المصدر: BMC Genomics, Vol 22, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Cattle, Stillborn: arhinencephaly, Aprosencephaly, de novo mutation, ZIC2, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/c4d6e68655d44a0985ac4896a9533df3

المؤلفون: Tokmak, Turgut Tursem, Koc, Ali, Karabiyik, Ozgur, Kaya, Altan, Gureli, Mustafa

المصدر: Sao Paulo Medical Journal. May 2019 137(3)

مصطلحات موضوعية: Aprosencephaly and cerebellar dysgenesis [supplementary concept], Dermoid cyst, Encephalocele

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802019000300298

المؤلفون: Turgut Tursem Tokmak, Ali Koc, Ozgur Karabiyik, Altan Kaya, Mustafa Gureli

المصدر: São Paulo Medical Journal, Iss 0 (2018)

مصطلحات موضوعية: Aprosencephaly and cerebellar dysgenesis [supplementary concept], Dermoid cyst, Encephalocele, Medicine

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802018005014101&lng=en&tlng=en; https://doaj.org/toc/1806-9460

URL الوصول: https://doaj.org/article/7185dadce26746b8bd2d80d34c1da9a4

المؤلفون: Kitova Tanya, Kitov Borislav, Cheikh Nahed Ben, Gaigi Soumeya Siala

المصدر: Pteridines, Vol 26, Iss 1, Pp 37-40 (2015)

مصطلحات موضوعية: atelencephalic aprosencephaly, central nervous system pathology, chromosome anomalies, trisomy 13, Crystallography, QD901-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0933-4807; https://doaj.org/toc/2195-4720

URL الوصول: https://doaj.org/article/ff87d801755e4dc3884deaf036456a1e

المؤلفون: Tokmak,Turgut Tursem, Koc,Ali, Karabiyik,Ozgur, Kaya,Altan, Gureli,Mustafa

المصدر: Sao Paulo Medical Journal n.ahead 2018

مصطلحات موضوعية: Aprosencephaly and cerebellar dysgenesis [supplementary concept], Dermoid cyst, Encephalocele

وصف الملف: text/html

الاتاحة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802018005014101

المؤلفون: Milena Laure-Kamionowska, Krystyna Szymańska, Teresa Klepacka

المصدر: Folia neuropathologica. 53(4)

مصطلحات موضوعية: Perinatal Death, Infant, Newborn, Infant, Aplasia, Anatomy, Biology, medicine.disease, Infant newborn, Atelencephaly, Pathology and Forensic Medicine, Prosencephalon, Young Adult, medicine.anatomical_structure, Holoprosencephaly, Ventricle, Pregnancy, Forebrain, Aprosencephaly, medicine, Diseases in Twins, Humans, Female, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b78eaf19a7164b3ce7fffafa4741abb
https://pubmed.ncbi.nlm.nih.gov/26785373

المؤلفون: N. Kinoshita, Yoshihiro Takeuchi, Tomoyuki Takano, S. Narumiya

المصدر: Neuropathology and Applied Neurobiology. 36:353-355

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Histology, Fatal outcome, business.industry, MEDLINE, medicine.disease, Pathology and Forensic Medicine, Midbrain, Neurology, Dysplasia, X ray computed, Physiology (medical), medicine, Aprosencephaly, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c97e041969bc1a480ce8e85a849fef3c
https://doi.org/10.1111/j.1365-2990.2010.01066.x

المؤلفون: Barone, C, Bartoloni, Giovanni, Cataliotti, A, Indaco, L, Pappalardo, E, Barrano, B, Ettore, G, Bianca, S.

المصدر: Congenital anomalies. 52(1)

مصطلحات موضوعية: Anencephaly, aprosencephaly, acalvaria, Garcia-Lurie syndrome, Brain, Genetic Counseling, Prosencephalon, Thumb, Pregnancy, Prenatal Diagnosis, Humans, Female, Neural Tube Defects

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::40ececa666e45f810f89fcc722016ee8
https://pubmed.ncbi.nlm.nih.gov/22348786

المؤلفون: G. Renzetti, A. Villani, C. Bizzarri, E. Vignati, A. Gianotti, M. Cappa, Juliana Szakacs, Jeanette J. Townsend, Mark E. Miller, John M. Opitz, Anne M. Kennedy, Janice L. Byrne, CHESSA, Luciana

المساهمون: G., Renzetti, A., Villani, C., Bizzarri, Chessa, Luciana, E., Vignati, A., Gianotti, M., Cappa, Juliana, Szakac, Jeanette J., Townsend, Mark E., Miller, John M., Opitz, Anne M., Kennedy, Janice L., Byrne

مصطلحات موضوعية: anterior chamber dysgenesi, aprosencephaly, atelencephaly, chromosome breakage, garcia-lurie syndrome, hydranencephaly, microphthalmia, radial dysgenesi, xk syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/16208689; info:eu-repo/semantics/altIdentifier/wos/WOS:000232937800019; volume:138 A; issue:4; firstpage:401; lastpage:410; numberofpages:10; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/100955; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-27444434821; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000232937800019&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-27444434821&partnerID=65&md5=f2406da5eac3918d41c34c169f6cc015

الاتاحة: http://hdl.handle.net/11573/100955
https://doi.org/10.1002/ajmg.a.30600
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000232937800019&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-27444434821&partnerID=65&md5=f2406da5eac3918d41c34c169f6cc015

المؤلفون: Kajantie E, Salonen R, Ammälä P

المصدر: Clinical dysmorphology. 11(4)

مصطلحات موضوعية: Male, Ventriculoseptal defect, Megacolon, Ultrasonography, Prenatal, Pathology and Forensic Medicine, Bilateral radial aplasia, Pregnancy, medicine, Aprosencephaly, Humans, Abnormalities, Multiple, Genetics (clinical), Fetus, business.industry, Brain, General Medicine, Anatomy, medicine.disease, Phenotype, Hypoplasia, Atelencephaly, Radius, Face, Pediatrics, Perinatology and Child Health, Aborted Fetus, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a954041828123e696da16dbb46e9ff3
https://pubmed.ncbi.nlm.nih.gov/12402000

المؤلفون: J. B. Bijlsma, P. F. Ippel, W. W. M. Hack, H. F. van der Blij, E. J. Breslau-Siderius, S. Bouve

المصدر: European journal of pediatrics. 157(6)

مصطلحات موضوعية: Male, Microcephaly, Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Infant, Newborn, Computed tomography, medicine.disease, Atelencephaly, Central nervous system disease, Dysgenesis, Prosencephalon, Pediatrics, Perinatology and Child Health, medicine, Aprosencephaly, Humans, business, Tomography, X-Ray Computed, Chromosome 13

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0739efd6bd49435babb89def06218786
https://pubmed.ncbi.nlm.nih.gov/9667407

المؤلفون: K. Kuchelmeister, W. Hecht, S. Klumpp, Christiane Herden, L. Brachthäuser, Manfred Reinacher

المصدر: Journal of Comparative Pathology. 146:73

مصطلحات موضوعية: Otocephaly, Genetics, General Veterinary, business.industry, Mutation (genetic algorithm), medicine, Aprosencephaly, Biology, business, medicine.disease, Pathology and Forensic Medicine, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::509eb38fc218fb88179d5a7f461e7259
https://doi.org/10.1016/j.jcpa.2011.11.114

المؤلفون: M. Yamamoto, A. Insunza, G. Lay-Son, L. Caicedo, G. Repetto

المصدر: Ultrasound in Obstetrics and Gynecology. 36:202-202

مصطلحات موضوعية: Microcephaly, Reproductive Medicine, Radiological and Ultrasound Technology, business.industry, Anencephaly, medicine, Obstetrics and Gynecology, Radiology, Nuclear Medicine and imaging, General Medicine, Anatomy, medicine.disease, business, XK aprosencephaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b6cf77c5e58d9b95c78c21262235c90e
https://doi.org/10.1002/uog.8428

المؤلفون: V. Jay, G. Ronen, C. Pushpanathan, B. Cramer

المصدر: Journal of Neuropathology and Experimental Neurology. 49:264

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Cerebellum, business.industry, General Medicine, Atelencephaly, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Dysgenesis, medicine.anatomical_structure, Neurology, Aprosencephaly, Medicine, Neurology (clinical), Brainstem, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7970b493d2b7242ad28fbbf585f26757
https://doi.org/10.1097/00005072-199005000-00015

المؤلفون: Rick A. Martin, John G. Carey

المصدر: American Journal of Medical Genetics. 11:369-371

مصطلحات موضوعية: business.industry, XK-aprosencephaly syndrome, Aprosencephaly, Medicine, Computational biology, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::27ee26811944586eab97da59506f2575
https://doi.org/10.1002/ajmg.1320110316

المؤلفون: Eugeny D. Cherstvoy, Irena A. Kirillova, Iosif W. Lurie, Ivan A. Shved, Michael K. Nedzed, Teresa I. Ostrovskaja, Gennady I. Lazjuk

المصدر: American Journal of Medical Genetics. 7:231-234

مصطلحات موضوعية: business.industry, XK-aprosencephaly syndrome, Medicine, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1215ba68455e8a601d306aa176f4d328
https://doi.org/10.1002/ajmg.1320070216

المؤلفون: Eugeny D. Cherstvoy, John M. Optiz, Gennady I. Lazjuk, Iosif W. Lurie, Michael K. Nedzved, Irena A. Kirillova

المصدر: American Journal of Medical Genetics. 3:303-309

مصطلحات موضوعية: business.industry, Anatomy, Aplasia, Cyclopia, medicine.disease, Alobar holoprosencephaly, Atelencephaly, Mobile cecum, Hypospadias, Aprosencephaly, medicine, XK syndrome, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2777e5b08e5fa22f4e1781795a559471
https://doi.org/10.1002/ajmg.1320030310

المؤلفون: Philip L. Townes, Elizabeth E. Rosquete, B. Dale Magee, James F. Reynolds, John M. Optiz, Karen L. Reuter

المصدر: American journal of medical genetics. 29(3)

مصطلحات موضوعية: Adult, Radial aplasia, Biology, Oligodactyly, XK aprosencephaly, Holoprosencephaly, Pregnancy, XK-aprosencephaly syndrome, Prenatal Diagnosis, Anencephaly, medicine, Aprosencephaly, Humans, Genetics (clinical), Ultrasonography, Genetics, Skull, Infant, Newborn, Brain, Anatomy, Syndrome, medicine.disease, Alobar holoprosencephaly, Face, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ae2d0d1c7d989a283a5316df6164255
https://pubmed.ncbi.nlm.nih.gov/3287923

المؤلفون: W. N. Adkins, Elisabeth G. Kaveggia

المصدر: American journal of medical genetics. 3(3)

مصطلحات موضوعية: Hyperthermia, medicine.medical_specialty, business.industry, Infant, Newborn, Brain, Infant, Hypothermia, medicine.disease, Dysgenesis, Endocrinology, Holoprosencephaly, Internal medicine, Face, Forebrain, Aprosencephaly, Medicine, Humans, Abnormalities, Multiple, Female, sense organs, medicine.symptom, business, Hyponatremia, Hypoaldosteronism, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0161c0f05e0f485e2095072bc9c04d18
https://pubmed.ncbi.nlm.nih.gov/484598

المؤلفون: M. Michael Cohen

المصدر: American journal of medical genetics. 34(2)

مصطلحات موضوعية: Cognitive science, Brain, Anatomy, Lobar holoprosencephaly, Syndrome, medicine.disease, Ethmocephaly, Atelencephaly, Facial Bones, Part iii, Teratogens, Holoprosencephaly, Forebrain, medicine, Aprosencephaly, Cebocephaly, Prevalence, Humans, Abnormalities, Multiple, Psychology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d0ae85f20b4218f4dad727625671dee
https://pubmed.ncbi.nlm.nih.gov/2260579