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1
المؤلفون: Connor J. Peck, Derek M. Steinbacher, John Smetona, Joseph Lopez
المصدر: Clinics in plastic surgery. 48(3)
مصطلحات موضوعية: medicine.medical_treatment, Microretrognathia, Osteogenesis, Distraction, Mandible, 030230 surgery, 03 medical and health sciences, 0302 clinical medicine, stomatognathic system, Deformity, Medicine, Humans, Craniofacial, Orthodontics, business.industry, Orthognathic Surgical Procedures, fungi, medicine.disease, Patient population, Ramus of the mandible, medicine.anatomical_structure, Mandibular distraction, 030220 oncology & carcinogenesis, Quality of Life, Distraction osteogenesis, Surgery, medicine.symptom, business, Treacher Collins syndrome, Mandibular Advancement, Mandibulofacial Dysostosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75e6fd7731d4ae8551ba59637c99bd5bTest
https://pubmed.ncbi.nlm.nih.gov/34051896Test -
2
المؤلفون: Kerri Bosfield, Jullianne Diaz, Eyby Leon
المصدر: Mol Syndromol
مصطلحات موضوعية: business.industry, Microretrognathia, Macrocephaly, Karyotype, Anatomy, medicine.disease, Frontal Bossing, Novel Insights from Clinical Practice, Gene duplication, Genetics, Medicine, Palatal anomalies, Global developmental delay, medicine.symptom, business, Kyphoscoliosis, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18038b0d479c3d65765cf15a5b69e4f2Test
https://europepmc.org/articles/PMC8215960Test/ -
3
المصدر: Oral and maxillofacial surgery. 25(3)
مصطلحات موضوعية: Microretrognathia, Micrognathism, Osteogenesis, Distraction, Mandible, Tongue Base, 03 medical and health sciences, 0302 clinical medicine, Tracheostomy, stomatognathic system, Distraction, Deformity, Medicine, Humans, 030223 otorhinolaryngology, Orthodontics, business.industry, Infant, 030206 dentistry, Congenital mandibular hypoplasia, Airway Obstruction, Treatment Outcome, Otorhinolaryngology, Mandibular distraction, Oral and maxillofacial surgery, Surgery, Oral Surgery, medicine.symptom, business, Mandibulofacial Dysostosis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1f66998eb73a821b9bad68ac85864ffTest
https://pubmed.ncbi.nlm.nih.gov/33128656Test -
4
المؤلفون: Xudong Liu, Andrea Guerin, Beatrice Kaiser, Amy J. M. McNaughton, Muhammad Ayub, Kyle Lou, Liam Harris-Lowe, Melissa Hudson, Calvin Sjaarda
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Male, microretrognathia, DNA Copy Number Variations, Gene Dosage, autism, Biology, Transcriptome, immune dysregulation, Chromosome 19, Gene Duplication, Gene duplication, medicine, Humans, Family, Genetic Predisposition to Disease, Microbiome, RNA, Messenger, intellectual disability, severe, Nuclear family, Gene, Genetic Association Studies, Research Articles, Genetics, Comparative Genomic Hybridization, Genes, Essential, Gene Expression Profiling, Siblings, Facies, General Medicine, medicine.disease, Pedigree, Phenotype, Autism spectrum disorder, Neurodevelopmental Disorders, Autism, Female, Chromosomes, Human, Pair 19, borderline personality disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d02e1e752d779bb18d28eb35dac1093bTest
https://pubmed.ncbi.nlm.nih.gov/32321736Test -
5
المؤلفون: John C. Carey, Timothy Tidwell, Chris Miller, Pinar Bayrak-Toydemir, Janice C. Palumbos, Malia Deshotel
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Research Report, Male, Proband, downturned corners of mouth, Microcephaly, microretrognathia, dysphagia, superior pectus carinatum, Developmental Disabilities, Micrognathism, Golgi Apparatus, Biology, Endoplasmic Reticulum, Coatomer Protein, Short stature, mild intrauterine growth retardation, bulbous nose, Pectus Carinatum, Exome Sequencing, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, microcephaly, RNA, Messenger, Global developmental delay, severe global developmental delay, Genetics, Hypospadias, rhizomelia, bilateral cryptorchidism, General Medicine, COPI, medicine.disease, Archain, Phenotype, penoscrotal hypospadias, Coatomer, Child, Preschool, RNA splicing, medicine.symptom, Deglutition Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e1f71cc3e97a4f84da5b96c38019e8aTest
https://doi.org/10.1101/mcs.a005728Test -
6
المؤلفون: Eric W. Klee, Nicole L. Hoppman, Dusica Babovic-Vuksanovic, Margot A. Cousin, Patrick R. Blackburn, Katarzyna Polonis, Raul Urrutia, Teresa M. Kruisselbrink, Pavel N. Pichurin, Nicole J. Boczek, Gwen Lomberk
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: 0301 basic medicine, Research Report, Adult, Male, microretrognathia, moderate intrauterine growth retardation, Gene Dosage, Biology, generalized neonatal hypotonia, Short stature, DNA Methyltransferase 3A, Craniofacial Abnormalities, 03 medical and health sciences, neuroblastoma, 0302 clinical medicine, Gene Duplication, Gene duplication, medicine, Congenital Hypothyroidism, Humans, Abnormalities, Multiple, Enhancer of Zeste Homolog 2 Protein, DNA (Cytosine-5-)-Methyltransferases, Child, overgrowth, Weaver syndrome, Genetics, Sotos syndrome, EZH2, bilateral talipes equinovarus, delayed gross motor development, General Medicine, medicine.disease, hip dysplasia, Hypotonia, Pedigree, short stature, 030104 developmental biology, Phenotype, moderate global developmental delay, Histone methyltransferase, DNA methylation, Female, medicine.symptom, Hand Deformities, Congenital, 030217 neurology & neurosurgery, moderate expressive language delay
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86bf5359cb97d5735167ac8ecfa4fc39Test
http://europepmc.org/articles/PMC6071565Test -
7
المؤلفون: Jing Li, Wen Xu, Scott P. Bartlett, Patrick A. Gerety, Jesse A. Taylor
المصدر: The Journal of craniofacial surgery. 28(5)
مصطلحات موضوعية: Male, Adolescent, Cephalometry, Microretrognathia, medicine.medical_treatment, Micrognathism, Osteogenesis, Distraction, Retrognathia, 030230 surgery, 03 medical and health sciences, 0302 clinical medicine, Postoperative Complications, medicine, Deformity, Humans, Gonial angle, Prospective Studies, Craniofacial, Child, Orthodontics, business.industry, Open Bite, General Medicine, Craniometry, medicine.disease, Otorhinolaryngology, 030220 oncology & carcinogenesis, Child, Preschool, Distraction osteogenesis, Surgery, Female, medicine.symptom, business, Airway
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f210cad7a01e4b81744704cf2dcfe3acTest
https://pubmed.ncbi.nlm.nih.gov/28582295Test -
8
المؤلفون: Charu, Kaiwar, Michael T, Zimmermann, Matthew J, Ferber, Zhiyv, Niu, Raul A, Urrutia, Eric W, Klee, Dusica, Babovic-Vuksanovic
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Male, Models, Molecular, Research Report, microretrognathia, Adolescent, Autism Spectrum Disorder, Developmental Disabilities, oromotor apraxia, Optic Atrophies, Hereditary, relative macrocephaly, Seizures, decreased CSF homovanillic acid (HVA), Intellectual Disability, Exome Sequencing, optic disc hypoplasia, Humans, Exome, Language Development Disorders, Child, Genetic Association Studies, amblyopia, aplasia/hypoplasia of the optic nerve, COUP Transcription Factor I, cortical visual impairment, DNA, DNA-Binding Proteins, short stature, Optic Atrophy, Child, Preschool, Mutation, Muscle Hypotonia, Female, severe muscular hypotonia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::9b8bdf3cfadb10ff08a4d77934c2537fTest
https://pubmed.ncbi.nlm.nih.gov/28963436Test -
9
المؤلفون: Patrick R, Blackburn, Sarah S, Barnett, Michael T, Zimmermann, Margot A, Cousin, Charu, Kaiwar, Filippo, Pinto E Vairo, Zhiyv, Niu, Matthew J, Ferber, Raul A, Urrutia, Duygu, Selcen, Eric W, Klee, Pavel N, Pichurin
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Research Report, downturned corners of mouth, microretrognathia, Developmental Disabilities, bicornuate uterus, Mutation, Missense, hydroureter, low posterior hairline, generalized neonatal hypotonia, hydronephrosis, Intellectual Disability, recurrent urinary tract infections, Humans, Exome, Language Development Disorders, poor speech, congenital strabismus, neurogenic bladder, vesicoureteral reflux, DNA, DNA-Binding Proteins, short stature, Phenotype, moderate global developmental delay, Neurodevelopmental Disorders, Child, Preschool, Mutation, Female, urethral stricture, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::2766efb29691f6ecf3c9eb4068126b58Test
https://pubmed.ncbi.nlm.nih.gov/28487885Test -
10
المؤلفون: Alexander M. Zink, Jan Senderek, Eva Wohlleber, Ute Moog, G.A. Rappold, W. Kleffmann, Hartmut Engels, Jennifer A. Lee, E. Mangold
المصدر: Molecular Syndromology. 3:68-75
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Candidate gene, business.industry, Microretrognathia, Point mutation, Postnatal microcephaly, medicine.disease, Phenotype, Short stature, Failure to thrive, Intellectual disability, Genetics, Medicine, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ea13e2e1808b5553a9721ba5773ab6fbTest
https://doi.org/10.1159/000341252Test