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المؤلفون: Sweeney, Nathaly M, Nahas, Shareef A, Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C, Dimmock, David P, Kingsmore, Stephen F, RCIGM Investigators

المصدر: Cold Spring Harbor molecular case studies. 4(3)

مصطلحات موضوعية: RCIGM Investigators, Face, Neck, Humans, Hand Deformities, Congenital, Micrognathism, Heart Defects, Congenital, Abnormalities, Multiple, Critical Illness, Genomics, Phenotype, Infant, Disease Management, Female, Genome-Wide Association Study, Delayed Diagnosis, Intellectual Disability, Hernias, Diaphragmatic, Congenital, Whole Genome Sequencing, Infections, anteverted nares, aplasia/hypoplasia of the corpus callosum, central hypotonia, congenital diaphragmatic hernia, congenital mitral stenosis, failure to thrive in infancy, frontal hirsutism, malrotation of small bowel, moderate global developmental delay, perimembranous ventricular septal defect, postductal coarctation of the aorta, recurrent respiratory infections

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/26t7f4dt

المؤلفون: Kamity, Ranjith^{Aff3, Aff4}

المساهمون: Martin, Gilbert I., editor^Aff1, Rosenfeld, Warren, editor^Aff2

المصدر: Common Problems in the Newborn Nursery : An Evidence and Case-based Guide. :171-182

Degree: MD FAAP

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المؤلفون: Mohammed H. AlBanji, Abdulaziz N. AlSaad, Riyam F. AlAnazi, Zahra A. Aleisa, Dalya S. Alam, Aqeela H. Alhashim

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100665- (2020)

مصطلحات موضوعية: Central hypotonia, Peripheral hypotonia, Mixed hypotonia, Whole exome sequencing, MRI brain, Molecular genetics, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920301117; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/4655b5a7ad4e493d95c322ddf08e199e

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المؤلفون: Podvorec, Doria

المساهمون: Petković Ramadža, Danijela, Barišić, Nina, Jelušić, Marija

مصطلحات موضوعية: peripheral hypotonia, treatment, differential diagnosis, central hypotonia, floppy infant

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4137::d2d5b9204a90a0d0f89a7494e079f014
https://urn.nsk.hr/urn:nbn:hr:105:208452

المؤلفون: Agatino Battaglia

المصدر: Cassidy and Allanson's Management of Genetic Syndromes

مصطلحات موضوعية: Genetics, Chromosome 15, Isodicentric chromosome 15 syndrome, Epilepsy, Isodicentric 15, medicine, Central hypotonia, Biology, medicine.disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9527113ac9f2d9f8e91ea04124f10ffd
https://doi.org/10.1002/9781119432692.ch33

المؤلفون: Bernard Dan

المساهمون: Rehabilitation Research, Physiotherapy, Human Physiology and Anatomy, Clinical sciences

مصطلحات موضوعية: counseling, Developmental Neuroscience, Neuroscience(all), Pediatrics, Perinatology and Child Health, Muscle Hypotonia/diagnosis, Muscle Hypotonia, Humans, Infant, Neurology (clinical), Pediatrics, Perinatology, and Child Health, Prognosis, central hypotonia, rehabilitation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d02312516b4f98035dbb8acd1901159
https://biblio.vub.ac.be/vubir/(203220db-3af7-45b7-bb7b-2586c22b8562).html