المؤلفون: Natália Silva Costa, Laura Maria Andrade Oliveira, Tomislav Meštrović, Christina W. Obiero, Shui Shan Lee, Tatiana Castro Abreu Pinto

المصدر: International Journal of Infectious Diseases, Vol 124, Iss , Pp 168-170 (2022)

مصطلحات موضوعية: Group B Streptococcus, Neonatal infections, Prenatal-onset GBS disease, POGBS disease recognition month, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1201971222005549; https://doaj.org/toc/1201-9712

URL الوصول: https://doaj.org/article/d04bdfc49fdc4b078fa1080ffa0efc27

المؤلفون: Aizeddin A. Mhanni, Cheryl Rockman‐Greenberg, Lawrence Ryner, Martin Bunge

المصدر: JIMD Reports, Vol 61, Iss 1, Pp 42-47 (2021)

مصطلحات موضوعية: brain morphogenesis, lactic acidosis, neuroimaging, prenatal onset, pyruvate carboxylase, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/24a9a0c243f74903a5d910a48f09ade8

المؤلفون: Cheryl Rockman-Greenberg, Aizeddin A. Mhanni, Martin Bunge, Lawrence Ryner

المصدر: JIMD Reports, Vol 61, Iss 1, Pp 42-47 (2021)
JIMD Reports

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Case Report, Case Reports, QH426-470, Creatine, pyruvate carboxylase, Biochemistry, Genetics and Molecular Biology (miscellaneous), Diseases of the endocrine glands. Clinical endocrinology, Lateral ventricles, chemistry.chemical_compound, Internal medicine, Internal Medicine, medicine, prenatal onset, Genetics, Decompensation, neuroimaging, Pyruvate carboxylase deficiency, business.industry, medicine.disease, RC648-665, Hypotonia, Pyruvate carboxylase, lactic acidosis, Endocrinology, chemistry, Lactic acidosis, brain morphogenesis, medicine.symptom, business, Brain morphogenesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e40991e8c178ba81fbfc19cc73951d99
https://doaj.org/article/24a9a0c243f74903a5d910a48f09ade8

المؤلفون: Ozge Surmeli-Onay, Selin Yakarisik, Ayse Korkmaz, Zuhal Akcoren, Aysel Yuce, Heiko Runz, Miriam Stampfer, Murat Yurdakok

المصدر: Pediatrics and Neonatology, Vol 54, Iss 5, Pp 344-347 (2013)

مصطلحات موضوعية: filipin staining, Niemann–Pick type C disease, nonimmune hydrops fetalis, prenatal onset, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1875957213000168; https://doaj.org/toc/1875-9572

URL الوصول: https://doaj.org/article/7964b9ba3495446fba2d1e449fb644e2

المؤلفون: Funari, Kim Ca, Antonio M. Lerario, Paulo Ferrez Collett-Solberg, Edoarda Vasco de Albuquerque Albuquerque, Andrew Dauber, Miura Sugayama Sm, Honjo Kawahira Rs, Bruna L Freire, Thais Kataoka Homma, Mirian Yumie Nishi, Jorge Aal, Alexsandra C. Malaquias, Arnhold Ijp, Gabriela A Vasques, Débora Romeo Bertola

المصدر: The Journal of Pediatrics. 215:192-198

مصطلحات موضوعية: Male, Candidate gene, Pediatrics, medicine.medical_specialty, Ubiquitin-Protein Ligases, Kinesins, Cell Cycle Proteins, Dwarfism, Short stature, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Exome Sequencing, Intellectual disability, Humans, Medicine, Abnormalities, Multiple, Prospective Studies, 030212 general & internal medicine, Child, Prospective cohort study, Cyclin-Dependent Kinase Inhibitor p57, Exome sequencing, Adenosine Triphosphatases, biology, business.industry, Tumor Suppressor Proteins, Histone-Lysine N-Methyltransferase, medicine.disease, Prenatal onset, Actins, DNA-Binding Proteins, Repressor Proteins, Cytoskeletal Proteins, KMT2A, Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases, Infant, Small for Gestational Age, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Etiology, Small for gestational age, Transcriptional Elongation Factors, medicine.symptom, business, Myeloid-Lymphoid Leukemia Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc4e67eea6104c9b74119e3a4633f0f7
https://doi.org/10.1016/j.jpeds.2019.08.024

المؤلفون: Wenbo Wang, Xiao-jian Xie, Li Sun, Xiaohong Zhong, Zhiying Su, Yasong Xu, Qichang Wu

المصدر: Case Reports in Obstetrics and Gynecology
Case Reports in Obstetrics and Gynecology, Vol 2019 (2019)

مصطلحات موضوعية: 0303 health sciences, Pediatrics, medicine.medical_specialty, Multidisciplinary assessment, business.industry, Achondrogenesis, Genetic heterogeneity, Molecular genetic testing, Genetic counseling, Obstetrics and Gynecology, Case Report, Retrospective cohort study, medicine.disease, lcsh:Gynecology and obstetrics, Prenatal onset, Osteochondrodysplasia, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Medicine, business, lcsh:RG1-991, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df8acfffc85938b00f13465f28dc99a4
https://doi.org/10.1155/2019/7981767

المؤلفون: Byung Hee Koh, Mimi Kim, Bo-Kyeong Kang, Soon-Young Song, Seung-Jin Yoo

المصدر: 대한영상의학회지, Vol 80, Iss 4, Pp 783-787 (2019)

مصطلحات موضوعية: musculoskeletal diseases, lcsh:Medical physics. Medical radiology. Nuclear medicine, medicine.medical_specialty, business.industry, lcsh:R895-920, embryonal rhabdomyosarcoma, medicine.disease, Prenatal onset, body regions, pelvic neoplasm, newborn, hemic and lymphatic diseases, medicine, Radiology, Nuclear Medicine and imaging, Radiology, Embryonal rhabdomyosarcoma, rhabdomyosarcoma, Rhabdomyosarcoma, business, neoplasms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0df1fde532187450f660bf6a83c06cf5
https://doaj.org/article/2f8e8c0e19234bf38099d88fb84d8c04

المؤلفون: Iman Abumansour, Ghaidaa Farouk Hakeem, Fadwah Taher, Alaa Edrees, Radiah Mahmoud Iskandarani, Farrukh Javed

المصدر: Clinical Case Reports, Vol 9, Iss 5, Pp n/a-n/a (2021)
Clinical Case Reports

مصطلحات موضوعية: Medicine (General), opsismodysplasia, Case Report, 030204 cardiovascular system & hematology, skeletal dysplasia, Bioinformatics, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, R5-920, medicine, INPPL1 gene, Gene, business.industry, General Medicine, medicine.disease, SCHNECKENBECKEN DYSPLASIA, Prenatal onset, Schneckenbecken dysplasia, INPPL1 gene‐related phenotype, Dysplasia, 030220 oncology & carcinogenesis, Opsismodysplasia, Medicine, Lethality, prenatal whole exome sequencing, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2002b26426e567b073d4cb43e212b5
https://doaj.org/article/f2ddc9be22b94f1daaad3ee909cc5f82

المؤلفون: Merih Berberoğlu

المصدر: Fertility and Reproductive Outcomes in Different Forms of Congenital Adrenal Hyperplasia ISBN: 9783030825904

مصطلحات موضوعية: endocrine system diseases, Decreased cortisol production, business.industry, media_common.quotation_subject, Reproductive life, Physiology, Fertility, urologic and male genital diseases, medicine.disease, Prenatal onset, Ambiguous genitalia, Sex steroid, GONADAL DYSFUNCTION, medicine, Congenital adrenal hyperplasia, business, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ec4c07fd9bbc0f92ded1c54e0e226dcc
https://doi.org/10.1007/978-3-030-82591-1_3

المؤلفون: Debra-Lynn Day-Salvatore, Kristin Levandoski, Manisha Sigdel, Carlos Benito

المصدر: Molecular Genetics and Metabolism. 132:S146-S147

مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Internal medicine, Genetics, Medicine, Oxidative phosphorylation, business, Molecular Biology, Biochemistry, Prenatal onset

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::61e13f8abd14edecbb01cfeb787140e6
https://doi.org/10.1016/s1096-7192(21)00314-0

المؤلفون: Juan José Menéndez Suso, Marta Pacio, Juan Manuel Montejo, Elena Mansilla, Pablo Lapunzina, Rocío Mena, Angela del Pozo, Fermina López-Grondona, Anna M. Cueto-González, Cristina Schuffelmann, Fernando Santos-Simarro, Sixto García-Miñaúr, María Irene Valenzuela-Palafoll, María Dolores Lledín, Carmen Jiménez-Rodríguez, Patricia Vallcorba, María Palomares-Bralo, Sofia M. Siccha, Mario Solís

المصدر: European Journal of Medical Genetics. 64:104338

مصطلحات موضوعية: Male, Genetics, Growth retardation, Mosaicism, Cancer predisposition, Nuclear Proteins, Chromosome Disorders, General Medicine, Biology, Prenatal onset, Phenotype, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME, Mutation, Humans, Cardiovascular malformations, Child, Microtubule-Associated Proteins, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d366150d420e226d5274c3dc4672cc5
https://doi.org/10.1016/j.ejmg.2021.104338

المؤلفون: Kenji Kurosawa, Noriko Aida, Jun Shibasaki, Yoshinori Tsurusaki, Yuichi Kimura, Yota Sato, Kazuya Hiiragi, Yumi Enomoto, Moe Akahira-Azuma

المصدر: Human Genome Variation
Human Genome Variation, Vol 5, Iss 1, Pp 1-4 (2018)

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, lcsh:QH426-470, Genetic counseling, Fetal ultrasonography, lcsh:Life, 030105 genetics & heredity, medicine.disease_cause, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Genetics, Data Report, Medicine, Molecular Biology, Mutation, Fetus, business.industry, medicine.disease, Prenatal onset, Porencephaly, lcsh:Genetics, lcsh:QH501-531, Schizencephaly, business, Novel mutation, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795e93beff2a9293849ee48965a7009c
http://europepmc.org/articles/PMC5938052

المؤلفون: Elena Botta, Tiziana Nardo, P. Striano, Miria Stefanini, Donata Orioli, Roberta Ricotti

مصطلحات موضوعية: 0301 basic medicine, Xeroderma Pigmentosum, education.field_of_study, medicine.medical_specialty, Xeroderma pigmentosum, business.industry, Population, Prenatal diagnosis, medicine.disease, Prenatal onset, Dermatology, Phenotype, Cockayne syndrome, 03 medical and health sciences, 030104 developmental biology, Biological Variation, Population, Prenatal Diagnosis, Biological variation, Genetics, Humans, Medicine, Cockayne Syndrome, business, education, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::072f7843009dc60439a68fa87388e9d7
http://hdl.handle.net/11567/1022117

المؤلفون: Wei Wang, Jean-Claude Farré, Zhi-Jie Xia, Suresh Subramani

المصدر: Autophagy, vol 14, iss 9

مصطلحات موضوعية: 0301 basic medicine, Biochemistry & Molecular Biology, Cell Survival, Research Paper - Basic Science, Ubiquitin-Protein Ligases, mTORC1, Gene mutation, Biology, Mechanistic Target of Rapamycin Complex 1, Tripartite Motif Proteins, 03 medical and health sciences, Lysosome, medicine, Autophagy, Humans, Amino Acids, Phosphorylation, TRIM37, Molecular Biology, Monomeric GTP-Binding Proteins, Cell Nucleus, MTORC1, TFEB, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Nuclear Proteins, Cell Biology, Hep G2 Cells, Prenatal onset, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, HEK293 Cells, Apoptosis, Cancer research, lysosome, Biochemistry and Cell Biology, Lysosomes, Signal Transduction, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dfa3879574d4d090f402a0081b866f8
https://escholarship.org/uc/item/71d1q931

المؤلفون: S D Kaliyamurthy, K Ramalingam, S Swathi, M Govindarajan

المصدر: Journal of Indian Society of Pedodontics and Preventive Dentistry, Vol 30, Iss 3, Pp 258-261 (2012)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, Dwarfism, Dental Caries, Malocclusion, Angle Class II, Audiology, mental retardation, Tooth Fractures, stomatognathic system, Intellectual Disability, medicine, Humans, Child, General Dentistry, Beaked nose, Dentition, Dental Care for Disabled, business.industry, Facies, Pulpitis, Second primary cancer, medicine.disease, Gingivitis, Prenatal onset, Seckel syndrome, lcsh:RK1-715, stomatognathic diseases, medicine.anatomical_structure, Cheilitis, Tooth Diseases, Dental Care for Chronically Ill, lcsh:Dentistry, Forehead, Female, Malocclusion, Mouth Diseases, business, "Bird-headed" dwarf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c75f6320456f41e84dab4c5541d105d
http://www.jisppd.com/article.asp?issn=0970-4388;year=2012;volume=30;issue=3;spage=258;epage=261;aulast=Ramalingam

المؤلفون: Gareth P. Jevon, Jan E. Dickinson, Gareth Baynam, Angela Overkov, Cathy Kiraly-Borri, Jack Goldblatt

المصدر: American Journal of Medical Genetics Part A. :966-969

مصطلحات موضوعية: Adult, Male, Ossification centre, Lethal skeletal dysplasia, Ultrasonography, Prenatal, Fetus, Pregnancy, Recurrence, Genetics, medicine, Desbuquois Dysplasia, Edema, Humans, Genetics (clinical), Bone Diseases, Developmental, business.industry, Anatomy, medicine.disease, Prenatal onset, Dysplasia, Postmortem Changes, Female, Differential diagnosis, business, Epiphyses, Sign (mathematics)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40239e0351d4b44d65fa6c6b1a6f2193
https://doi.org/10.1002/ajmg.a.33264

المؤلفون: Steve J. Funderburk, Barbara F. Crandall

المصدر: Clinical Genetics. 6:119-124

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Male genitalia, Genital anomalies, Dwarfism, Genitalia, Male, Short stature, Fingers, Internal medicine, Genetics, medicine, Blepharoptosis, Humans, Abnormalities, Multiple, Digital anomalies, Child, Genetics (clinical), business.industry, Craniofacial Dysostosis, Infant, Newborn, Infant, Syndrome, medicine.disease, Prenatal onset, Pedigree, Phenotype, Endocrinology, Aarskog Syndrome, Child, Preschool, Karyotyping, Female, Craniofacial dysostosis, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf922e06e3f531ba6a5ca792d1d2b348
https://doi.org/10.1111/j.1399-0004.1974.tb00639.x

المؤلفون: Ingrid Winship

المصدر: Clinical Genetics. 28:243-246

مصطلحات موضوعية: Adult, Male, Genetics, Adolescent, Sotos syndrome, Macrocephaly, Syndrome, Biology, medicine.disease, Prenatal onset, Gigantism, Pedigree, Intellectual Disability, Intellectual disability, medicine, Humans, Female, medicine.symptom, Child, Genetics (clinical), Affected offspring, Genes, Dominant

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f58939c9490d9d87e3dea3d9f05014de
https://doi.org/10.1111/j.1399-0004.1985.tb00393.x

المؤلفون: Mehmet Ertem, Burcu Ozturk Hismi, Gülhis Deda, Suat Fitoz, Aydan Kansu, Xiao Ping Zhou, Robert Pilarski, Mesiha Ekim, Mustafa Tekin, Charis Eng, Nejat Akar, Fatoş Yalçınkaya, Ercan Tutar, Saadet Arsan

المصدر: American Journal of Medical Genetics Part A. :1472-1475

مصطلحات موضوعية: Genetics, Tumor suppressor gene, Mutation (genetic algorithm), Cancer research, biology.protein, PTEN, Biology, Epidermal nevus, Verrucous Nevus, Prenatal onset, Genetics (clinical), Germline

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::77f38b6000c428abec1a8f7f7140da1f
https://doi.org/10.1002/ajmg.a.31273

المؤلفون: David Sillence, HB Chan, WF Lam

المصدر: Journal of Paediatrics and Child Health. 39:707-712

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Consanguineous family, Developmental Disabilities, Consanguinity, Risk Assessment, Short stature, Asian People, Desbuquois syndrome, medicine, Humans, Abnormalities, Multiple, Chromosome Aberrations, Bone Diseases, Developmental, business.industry, Siblings, Infant, Bone age, Syndrome, medicine.disease, Prenatal onset, Musculoskeletal Abnormalities, Radiography, Dysplasia, Radiological weapon, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76063a2750b9e0ebc2e427a8a0f1a173
https://doi.org/10.1046/j.1440-1754.2003.00252.x