المؤلفون: Prem Chand, Asna Sulaiman, Salman Kirmani

المصدر: Journal of the Pakistan Medical Association, Vol 73, Iss 10 (2023)

مصطلحات موضوعية: Infantile hypotonia, Intellectual disability, Gene mutation, Medicine

Relation: https://ojs.jpma.org.pk/index.php/public_html/article/view/6733; https://doaj.org/toc/0030-9982; https://doaj.org/article/6990684b7ed44a748d140263d99bb2cf

الاتاحة: https://doi.org/10.47391/JPMA.6733
https://doaj.org/article/6990684b7ed44a748d140263d99bb2cf

المؤلفون: Agnieszka Stembalska, Małgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Magdalena Klaniewska, Zuzanna Gamrot, Ewa Gronska, Rafal Ploski, Robert Smigiel

المصدر: Genes; Volume 13; Issue 5; Pages: 725

مصطلحات موضوعية: infantile hypotonia, respiratory failure syndrome, SMARD, LAS1L gene

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13050725

الاتاحة: https://doi.org/10.3390/genes13050725

المؤلفون: Dr.Sayema1, Dr. Shaan Hassan2, Dr. Ibne Ahmad3, Dr.Shagufta Wahab4

المصدر: International Journal of Case Reports; Vol. 4 (2020): International Journal of Case Reports; 176 ; 2572-8776

مصطلحات موضوعية: Infantile Hypotonia, Congenital Muscular Dystrophy, Cobblestone Lissencephaly, Fukuyama

وصف الملف: application/pdf

Relation: https://escipub.org/index.php/IJCR/article/view/608/580; https://escipub.org/index.php/IJCR/article/view/608

الاتاحة: https://escipub.org/index.php/IJCR/article/view/608
https://doi.org/10.28933/ijcr-2020-09-1405

المؤلفون: Andrea Lowden, Jocelyn Lorenzo, Alison Dolce

المصدر: Journal of Child Neurology. 36:1086-1094

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, MECP2 duplication syndrome, Electroencephalography, medicine.disease, Epilepsy, Infantile Hypotonia, Pediatrics, Perinatology and Child Health, Intellectual disability, medicine, Spastic, Neurodevelopmental delay, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4fd8f6c58599a9c80c1b6bb5dc66d5e0
https://doi.org/10.1177/08830738211030804

المؤلفون: Anju Shukla, Shivani Mishra, Katta M. Girisha

المصدر: Clinical Dysmorphology. 30:1-5

مصطلحات موضوعية: Genetics, Proband, Sanger sequencing, Psychomotor retardation, business.industry, fungi, General Medicine, medicine.disease, Phenotype, Hypotonia, Pathology and Forensic Medicine, symbols.namesake, Neurodevelopmental disorder, Infantile Hypotonia, Pediatrics, Perinatology and Child Health, medicine, symbols, Anatomy, Differential diagnosis, medicine.symptom, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c493a866fbf6987fc2f95a919013af15
https://doi.org/10.1097/mcd.0000000000000360

المؤلفون: Yuen-Ling Janíce Choi, Tsz-Kin Marcus Wong, Kwok Keung Daniel Ng

المصدر: AA practice. 14(6)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, business.industry, Methyl-CpG-Binding Protein 2, MECP2 duplication syndrome, Anesthetic management, General Medicine, Disease, Syndrome, medicine.disease, MECP2, METHYL-CpG-BINDING PROTEIN 2, Infantile Hypotonia, Anesthetic, Gene duplication, Mental Retardation, X-Linked, Medicine, Humans, business, medicine.drug, Anesthetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cc1b57d1ad49f9d4952e71e82ef15f6
https://pubmed.ncbi.nlm.nih.gov/32784320

المؤلفون: Ali Akhtar, Syed Adeel Hassan, Fahad N Sheikh, Noor Ul Falah, Maham Khan

المصدر: Cureus

مصطلحات موضوعية: Ataxia, genetic structures, Nystagmus, 030204 cardiovascular system & hematology, Joubert syndrome, 03 medical and health sciences, 0302 clinical medicine, Ptosis, batwing configuration, medicine, Internal Medicine, Global developmental delay, delayed milestones, business.industry, General Engineering, joubert syndrome, Anatomy, medicine.disease, Hypotonia, eye diseases, oculomotor dysfunction, Neurology, molar tooth appearance, Gait Ataxia, infantile hypotonia, medicine.symptom, business, Radiology, 030217 neurology & neurosurgery, Horizontal pendular nystagmus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88b866b53d2d4aac38a28ad4ac194c40
http://europepmc.org/articles/PMC6970099

المؤلفون: Martino Ruggieri, Alberto Verrotti, Piero Pavone, Raffaele Falsaperla, Andrea D. Praticò, Renata Rizzo

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Potocki–Lupski syndrome, cognitive delay, autism, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Infantile Hypotonia, Intellectual disability, Medicine, Expressivity (genetics), Genetics (clinical), business.industry, Cognitive delay, medicine.disease, behavioral disturbances, Male patient, Pediatrics, Perinatology and Child Health, Speech delay, Autism, medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9374acfee9d41a36a5be37aa0b43605d
http://hdl.handle.net/11391/1524260

المؤلفون: Pavone V, Mattina T, Pavone P, Falsaperla R, Testa G

المساهمون: Pavone, V, Mattina, T, Pavone, P, Falsaperla, R, Testa, G

مصطلحات موضوعية: COLI AI gene, Osteogenesis imperfecta, infantile hypotonia, motor delay, muscle involvement

وصف الملف: ELETTRONICO

Relation: volume:7; issue:3; firstpage:63; lastpage:66; numberofpages:4; journal:JOURNAL OF ORTHOPAEDIC CASE REPORTS; https://hdl.handle.net/11392/2537573

الاتاحة: https://hdl.handle.net/11392/2537573
https://doi.org/10.13107/jocr.2250-0685.808

المؤلفون: Pavone, Vito, Mattina, Teresa, Pavone, Piero, Falsaperla, Raffaele, Testa, Gianluca

المصدر: Journal of Orthopaedic Case Reports

مصطلحات موضوعية: infantile hypotonia, Case Report, Osteogenesis imperfecta, motor delay, COLI AI gene, muscle involvement

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ec09e055e0d0e47821f3826b818cf5c3
http://hdl.handle.net/20.500.11769/315499

المؤلفون: Karen Alton, Mohamed Nagiub, Premchand Anne

المصدر: The American Journal of Case Reports

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Glycogen accumulation, business.industry, failure to thrive, Physiology, Case Report, General Medicine, Disease, medicine.disease, Hypotonia, developmental delay, Age groups, cardiomegaly, Infantile Hypotonia, Failure to thrive, medicine, Glycogen storage disease, hypotonia, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65a9ec10ed05356d7fdd9e537aca556b
https://doi.org/10.12659/ajcr.883367

المؤلفون: A. L. Woolf

المصدر: Developmental Medicine & Child Neurology. 2:19-27

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Muscle biopsy, Developmental Neuroscience, medicine.diagnostic_test, business.industry, Infantile Hypotonia, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Floppy baby, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::284dc4da9652aaa06b148417b2ad08d2
https://doi.org/10.1111/j.1469-8749.1960.tb05128.x

المؤلفون: Ritchie, David, Nierenberg, Barry

المصدر: Faculty Books and Book Chapters

مصطلحات موضوعية: Floppy baby syndrome, Floppy infant syndrome, Infantile hypotonia, Developmental Psychology, Education, Psychology

Relation: https://nsuworks.nova.edu/cps_facbooks/79

الاتاحة: https://nsuworks.nova.edu/cps_facbooks/79

المؤلفون: Üner Tan

المساهمون: Çukurova Üniversitesi

المصدر: Neurological research. 37(2)

مصطلحات موضوعية: Male, medicine.medical_specialty, Turkey, Evolution, Video Recording, Systems Theory, Speech Disorders, Developmental psychology, Physical medicine and rehabilitation, Quadrupedalism, Infantile Hypotonia, Intellectual Disability, medicine, Brain mri, Speech, Humans, Bipedalism, Gait, Siblings, Brain, Quadrupedal, General Medicine, Syndrome, Middle Aged, medicine.disease, Uner Tan syndrome, Biological Evolution, Magnetic Resonance Imaging, Neurology, Social Class, Dynamical systems theory, Neurology (clinical), Psychology, Locomotion, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c53e4d7f9ee13244f924fbdd88644488
https://pubmed.ncbi.nlm.nih.gov/25082551

المؤلفون: Orcesi S

المساهمون: Orcesi, S

مصطلحات موضوعية: abnormal posture, alertne, arthrogryposi, article, assisted ventilation, breathing pattern, cerebellum vermi, diagnostic procedure, differential diagnosi, Down syndrome, dyspnea, facial nerve paralysi, facie, fasciculation, gamma motoneuron, head circumference, human, hypoxic ischemic encephalopathy, infantile hypotonia, intercostal muscle, lagophthalmo, limb movement, molar tooth, motor neuron disease, muscle strength, muscle stretching, muscle tone, muscle weakne, myotatic reflex, myotonic dystrophy

وصف الملف: STAMPA

Relation: volume:89; issue:Suppl 4; firstpage:S79; lastpage:S81; numberofpages:3; journal:EARLY HUMAN DEVELOPMENT; http://hdl.handle.net/11571/1449997; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84886261859; https://www.sciencedirect.com/science/article/pii/S0378378213701105?pes=vor

الاتاحة: http://hdl.handle.net/11571/1449997
https://doi.org/10.1016/S0378-3782(13)70110-5
https://www.sciencedirect.com/science/article/pii/S0378378213701105?pes=vor

المؤلفون: Shigeo Kure, Yoichi Matsubara, Arigirios Dinopoulos, Donald L. Gilbert, Ton J. deGrauw, K. Sato, G. Chuck

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Aggressive outbursts, Adult, Male, medicine.medical_specialty, Hyperglycinemia, Hyperglycinemia, Nonketotic, DNA Mutational Analysis, Mutation, Missense, Biology, medicine.disease_cause, Glycine encephalopathy, Personality Disorders, Gene Expression Regulation, Enzymologic, Gene Frequency, Internal medicine, Infantile Hypotonia, Intellectual Disability, Chlorocebus aethiops, medicine, Missense mutation, Animals, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetics, Brain Chemistry, Mutation, Brain, medicine.disease, Glycine Dehydrogenase (Decarboxylating), Phenotype, Pedigree, Aggression, Endocrinology, Glycine, COS Cells, Muscle Hypotonia, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5961d948d68f69c181f3d4c509fcf753
https://pubmed.ncbi.nlm.nih.gov/15824356

المؤلفون: Matthew W. State, Elisabeth M. Dykens

المصدر: Journal of the American Academy of Child and Adolescent Psychiatry. 39(6)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Infantile Hypotonia, Angelman syndrome, Intervention (counseling), Developmental and Educational Psychology, medicine, Humans, Psychiatry, Depression (differential diagnoses), High rate, Genetics, Chromosomes, Human, Pair 15, Mental Disorders, nutritional and metabolic diseases, medicine.disease, nervous system diseases, Developmental disorder, Psychiatry and Mental health, Phenotype, Gene Expression Regulation, Learning disability, Mutation, medicine.symptom, Angelman Syndrome, Psychology, Genomic imprinting, Prader-Willi Syndrome, Hypothalamic Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53d2fce8a371e9f4e042fd6f6df8a976
https://pubmed.ncbi.nlm.nih.gov/10846317

المؤلفون: Eun Ju Kim, Jong Seouk Ban, Sang Gon Lee, Joon Woo Choi, Byung Woo Min, Ji Hyang Lee

المصدر: Korean Journal of Anesthesiology, Vol 62, Iss 2, Pp 179-183 (2012)
Korean Journal of Anesthesiology

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, prader-willi syndrome, Arteriovenous fistula, Case Report, anesthetic management, Short stature, Bronchospasm, lcsh:RD78.3-87.3, Morbid obesity, Anesthetic induction, Infantile Hypotonia, medicine, business.industry, Obese adult, desaturation, nutritional and metabolic diseases, medicine.disease, Obesity, morbid obesity, nervous system diseases, Surgery, Anesthesiology and Pain Medicine, lcsh:Anesthesiology, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9102f8d5fd3653f965e429e903fac5fa
https://doi.org/10.4097/kjae.2012.62.2.179

المؤلفون: Moris Angulo, Mariano Castro-Magana, John Uy, Warren Rosenfeld

المصدر: Prader-Willi Syndrome ISBN: 9783642842856

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, nutritional and metabolic diseases, medicine.disease, Growth hormone, Obesity, Short stature, Growth hormone secretion, nervous system diseases, Chromosome 15, Mental deficiency, Endocrinology, Infantile Hypotonia, Internal medicine, Delayed skeletal maturation, Medicine, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::41520e595f2307656bf3339f0193e73a
https://doi.org/10.1007/978-3-642-84283-2_19

المؤلفون: Victor Ionasescu, McCormick Wf, Shirley Mueller, Hans Zellweger, S.S. Schochet

المصدر: The Journal of Pediatrics. 80:839-842

مصطلحات موضوعية: Long lasting, Pediatrics, medicine.medical_specialty, Alveolar proteinosis, Autopsy, Pulmonary function testing, Muscular Diseases, Polysaccharides, Infantile Hypotonia, Leukocytes, Humans, Medicine, Younger sibling, Glycogen storage disease type IV, Sibling, business.industry, Liver Diseases, Muscles, Infant, Newborn, Fibroblasts, Glycogen Storage Disease, medicine.disease, Liver, Muscle Tonus, Splenomegaly, Pediatrics, Perinatology and Child Health, Female, business, Hepatomegaly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9ba8be6a5a6924fa991168a2179a8bf
https://doi.org/10.1016/s0022-3476(72)80144-6