المؤلفون: Kavita Aneja, MD, Sweta Krishnan, MD

المصدر: Radiology Case Reports, Vol 20, Iss 1, Pp 756-760 (2025)

مصطلحات موضوعية: Terminal 7q deletion syndrome, Distal 7q monosomy, Trisomy 13, Prenatal ultrasound, Holoprosencephaly, Fetal autopsy, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043324011543; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/01573172c56645d69f6ae7c7ac3fdb5b

المؤلفون: Parishmita Barman, MBBS, Gaurav Vedprakash Mishra, MBBS, MD, G Murugan, MBBS, MD, Piyoosh Priyadarshee, MBBS, Mayur Wanjari, MSc, Anshul Sood, MBBS

المصدر: Radiology Case Reports, Vol 20, Iss 4, Pp 2004-2008 (2025)

مصطلحات موضوعية: Brain malformation, Holoprosencephaly, Interhemispheric fissure, Lobar, Meningocele, Seizures, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043325000287; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/0f4a1ebe9def4632bff81a902396c468

المؤلفون: Tunde-Oremodu II, Enefia KK, Idholo U, Ofure AO, Kunle-Olowu OE, Oyedeji A

المصدر: Nigerian Journal of Paediatrics, Vol 45, Iss 1, Pp 19-24 (2024)

مصطلحات موضوعية: congenital malformations, craniofacial malformations, dysmorphism, holoprosencephaly sequence, niger delta region, Medicine

وصف الملف: electronic resource

Relation: https://www.njpaediatrics.com/index.php/njp/article/view/141; https://doaj.org/toc/0302-4660; https://doaj.org/toc/2814-2985

URL الوصول: https://doaj.org/article/19ff0aa2ce644f6e8f8d55694e1c26ce

المؤلفون: Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán, Shannon W. Davis

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-24 (2024)

مصطلحات موضوعية: Pituitary, Hypothalamus, Growth hormone, Cleft palate, Holoprosencephaly, Septo-optic dysplasia, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/0bbc158ef495443f94e7c8846687f0bb

المؤلفون: Katarzyna Anna Banasiak, Małgorzata Barbara Stańczyk, Elżbieta Szczepanik, Katarzyna Monika Krawiranda, Anita Janus, Kacper Piotr Kościelny, Marcin Tkaczyk

المصدر: Pediatria Polska, Vol 99, Iss 2, Pp 158-163 (2024)

مصطلحات موضوعية: diabetes insipidus, holoprosencephaly, hypernatraemia, infant, feeding and eating disorders., Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Feeding-difficulties-in-infancy-as-an-early-symptom-of-different-forms-of-diabetes-insipidus-a-series-of-cases,127,54175,1,1.html; https://doaj.org/toc/0031-3939; https://doaj.org/toc/2300-8660

URL الوصول: https://doaj.org/article/71233412caf5427fbe3857d78bda28d9

المؤلفون: Tzu-Rong Liu, Yi-An Kuo, Chi-Kang Lin

المصدر: Journal of Medical Sciences, Vol 44, Iss 3, Pp 137-140 (2024)

مصطلحات موضوعية: holoprosencephaly, trisomy 13 syndrome, chromosome disorders, neural tube defects, Medicine, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

وصف الملف: electronic resource

Relation: https://journals.lww.com/joms/fulltext/2024/44030/a_rare_case_of_early_diagnosed_trisomy_13_syndrome.6.aspx; https://doaj.org/toc/1011-4564; https://doaj.org/toc/2542-4939

URL الوصول: https://doaj.org/article/6b88113f14a441aeb29258e385cb0736

المؤلفون: Aslan Ahmadi, Mohammad Hossein Torkan, Ayda Sanaei, Reza Naseri

المصدر: Iranian Journal of Neonatology, Vol 15, Iss 2, Pp 63-67 (2024)

مصطلحات موضوعية: alobar holoprosencephaly, klinefelter syndrome, neurodevelopmental disorders, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://ijn.mums.ac.ir/article_23078_df32b729ac9cf111b4a056fa9797558c.pdf; https://doaj.org/toc/2251-7510; https://doaj.org/toc/2322-2158

URL الوصول: https://doaj.org/article/c4f1d865fe714296a859f5e6fd3e8520

المؤلفون: Geta G, Mesfin T, Tsegaye M, Bobe T, Bikila B, Hailu FC, Dejene T

المصدر: Research and Reports in Neonatology, Vol Volume 14, Pp 35-38 (2024)

مصطلحات موضوعية: ethmocephaly, holoprosencephaly, hypotelorism, proboscis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.dovepress.com/ethmocephaly-the-rarest-sub-type-of-holoprosencephaly-a-case-report-peer-reviewed-fulltext-article-RRN; https://doaj.org/toc/1179-9935

URL الوصول: https://doaj.org/article/1f48a736a2904dfc9c2d6d110e20b255

المؤلفون: Yu. V. Myronchuk, O. O. Pushnova, L. V. Taran, O. V. Dvizov

المصدر: Zaporožskij Medicinskij Žurnal, Vol 25, Iss 6, Pp 563-570 (2023)

مصطلحات موضوعية: alobar holoprosencephaly, pulmonary tuberculosis, child, household, clinical case, Medicine

وصف الملف: electronic resource

Relation: http://zmj.zsmu.edu.ua/article/view/288828/286320; https://doaj.org/toc/2306-4145; https://doaj.org/toc/2310-1210

URL الوصول: https://doaj.org/article/884783e0b5364ea8beef46ed002b32ee

المؤلفون: Tala Dakkak, Marah Mansour, Habib Jarbouh, Abdolmoin Ktail

المصدر: Clinical Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)

مصطلحات موضوعية: alobar holoprosencephaly, case report, cyclopia, malformation, synophthalmia, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/e686bc30d193444389cc6dfebf28db14

المؤلفون: R. SURESHKUMAR, Akhter RASOOL, T. SARATH, C. PUGAZHARASI, K. KRISHNAKUMAR

المصدر: Notulae Scientia Biologicae, Vol 16, Iss 1 (2024)

مصطلحات موضوعية: congenital anomaly, cyclopia, heifer, holoprosencephaly, radiograph, Agriculture (General), S1-972, Science (General), Q1-390

وصف الملف: electronic resource

Relation: https://www.notulaebiologicae.ro/index.php/nsb/article/view/11648; https://doaj.org/toc/2067-3264

URL الوصول: https://doaj.org/article/e7aa3fcc2f3249019606b0b91c69c3d8

المؤلفون: S. Yu. Cherdantseva, E. B. Olkhova, Yu. E. Cherdantseva, O. P. Kanailova, N. V. Gorbacheva

المصدر: Сибирский научный медицинский журнал, Vol 43, Iss 4, Pp 44-54 (2023)

مصطلحات موضوعية: septum pellucidum, cavity of septum pellucidum, septo-optic dysplasia, lobar holoprosencephaly, isolated absence of septum pellucidum, neurosonography, gestational age, Medicine

وصف الملف: electronic resource

Relation: https://sibmed.elpub.ru/jour/article/view/1155; https://doaj.org/toc/2410-2512; https://doaj.org/toc/2410-2520

URL الوصول: https://doaj.org/article/523121803944407aaff9f073b152a588

المصدر: Genetic Analysis of Brain Disorders
Belloni E, Muenke M, Roessler E, Traverso G, Siegel-Bartelt J, Frumkin A, Mitchell HF, Donis-Keller H, Helms C, Hing AV, Heng HH, Koop B, Martindale D, Rommens JM, Tsui LC, Scherer SW. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet. 1996 Nov;14(3):353-6. doi: 10.1038/ng1196-353.
Cohen MM Jr. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology. Teratology. 1989 Sep;40(3):211-35. doi: 10.1002/tera.1420400304.
Cohen MM Jr, Sulik KK. Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofac Genet Dev Biol. 1992 Oct-Dec;12(4):196-244.

المصدر: EXOMEDIANE - Retrospective Study Using High Throughput Sequencing (HTS) on Biological Samples to Improve Genetic Counseling for Patients With Previously Explored Craniofacial Midline Defects.

المؤلفون: Reinhard Altmann, Iris Scharnreitner, Sabine Enengl, Patrick Stelzl, Peter Oppelt, Elisabeth Reiter

المصدر: Ultrasound International Open, Vol 10, Iss (2024)

مصطلحات موضوعية: fetal brain, first trimester screening, holoprosencephaly, migrational disorders, ganglionic eminence, Medicine, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2509-596X; https://doaj.org/toc/2199-7152

URL الوصول: https://doaj.org/article/e2c19c4d898445599688528c13f29dae

المؤلفون: Graziani L., Nuovo S., Pisaneschi E., Carriero M. L., Baghernajad Salehi L., Nardone A. M., Manganaro L., Novelli A., D'Apice M. R., Mappa I., Novelli G.

المساهمون: Graziani, L., Nuovo, S., Pisaneschi, E., Carriero, M. L., Baghernajad Salehi, L., Nardone, A. M., Manganaro, L., Novelli, A., D'Apice, M. R., Mappa, I., Novelli, G.

مصطلحات موضوعية: FGFR1, holoprosencephaly, magnetic resonance imaging, Prenatal exome sequencing, recurrence risk

Relation: info:eu-repo/semantics/altIdentifier/pmid/38679587; info:eu-repo/semantics/altIdentifier/wos/WOS:001209141500001; volume:37; issue:1; journal:THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE; https://hdl.handle.net/11573/1719930

الاتاحة: https://hdl.handle.net/11573/1719930
https://doi.org/10.1080/14767058.2024.2344718

المؤلفون: Maillet, Alix, Manzo, Bruno, Issa, Julien, Olszewski, Raphael

المصدر: NEMESIS Negative effects in medical science: oral and maxillofacial surgery; Vol. 35 No. 1 (2024): Solitary median maxillary central incisor syndrome: cone beam computed tomography illustrated review; 1-12 ; NEMESIS; Vol. 35 No 1 (2024): Solitary median maxillary central incisor syndrome: cone beam computed tomography illustrated review; 1-12 ; 2593-3612 ; 2593-3604 ; 10.14428/nemesis.v35i1

مصطلحات موضوعية: Solitary median maxillary central incisor syndrome, orphan disease, holoprosencephaly, CBCT, cyclopia, craniofacial syndrome

وصف الملف: application/pdf

Relation: https://ojs.uclouvain.be/index.php/nemesis/article/view/83923/73483; https://ojs.uclouvain.be/index.php/nemesis/article/view/83923

الاتاحة: https://ojs.uclouvain.be/index.php/nemesis/article/view/83923

المؤلفون: Angela Galeotti, Giovanni Carlo De Vincentiis, Emanuela Sitzia, Giuseppe Marzo, Wanda Maldonato, Gaia Bompiani, Maria Beatrice Chiarini Testa, Alessandra Putrino, Andrea Bartuli, Paola Festa

المصدر: Children, Vol 11, Iss 5, p 554 (2024)

مصطلحات موضوعية: holoprosencephaly, rare disease, infant, congenital nasal pyriform aperture stenosis (CNPAS), balloon dilation, orthodontics, Pediatrics, RJ1-570

Relation: https://www.mdpi.com/2227-9067/11/5/554; https://doaj.org/toc/2227-9067; https://doaj.org/article/b41291a8c88b4242b5a9c64819a4db09

الاتاحة: https://doi.org/10.3390/children11050554
https://doaj.org/article/b41291a8c88b4242b5a9c64819a4db09

المؤلفون: Hughes, Joel, Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise, Grange, Dorothy, Berger, Seth, Payne, Katelyn, Masser-Frye, Diane, Hu, Tommy, Christie, Michelle, Clegg, Nancy, Everson, Joshua, Martinez, Ariel, Walsh, Laurence, Bedoukian, Emma, Jones, Marilyn, Harris, Catharine, Riedhammer, Korbinian, Choukair, Daniela, Fechner, Patricia, Rutter, Meilan, Hufnagel, Sophia, Roifman, Maian, Kletter, Gad, Delot, Emmanuele, Vilain, Eric, Lipinski, Robert, Vezina, Chad, Muenke, Maximilian, Chitayat, David

المصدر: American Journal of Human Genetics. 106(1)

مصطلحات موضوعية: MYPT1, PPP1R12A, disorders of sex development, embryogenesis, encephalocele, facial dysmorphism, forebrain, holoprosencephaly, hypospadias, omphalocele, Abnormalities, Multiple, Adolescent, Child, Child, Preschool, Disorders of Sex Development, Female, Gestational Age, Holoprosencephaly, Humans, Male, Mutation, Myosin-Light-Chain Phosphatase, Phenotype, Pregnancy, Urogenital Abnormalities

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0vd729sr

المؤلفون: Uttara Gautam, Sandeep Shrestha, Rajan Phuyal

المصدر: Journal of Karnali Academy of Health Sciences, Vol 6, Iss 3 (2023)

مصطلحات موضوعية: cyclopia, holoprosencephaly, proboscis, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://jkahs.org.np/jkahs/index.php/jkahs/article/view/833; https://doaj.org/toc/2616-0064; https://doaj.org/toc/2676-1327

URL الوصول: https://doaj.org/article/f2787ac46dfd4feda63e78b32a6098ed