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Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers.
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- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16283
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- Article
(What's the story) morning glory? MRI findings in morning glory disc anomaly.
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- Neuroradiology, 2024, v. 66, n. 7, p. 1225, doi. 10.1007/s00234-024-03375-2
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- Article
Evaluating the Therapeutic Properties of Natural Products in Orthodontic and Surgical Treatment of Dentofacial Deformities: A Systematic Review of Clinical Trials.
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- Nutrients, 2024, v. 16, n. 12, p. 1941, doi. 10.3390/nu16121941
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- Article
Maxillary Hypoplasia and Non-Invasive Ventilation: Literature Review and Proposed New Treatment Protocol.
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- Children, 2024, v. 11, n. 6, p. 720, doi. 10.3390/children11060720
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- Article
Treatment of Asymmetric Crying Face by Fascia lata Grafting.
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- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 6, p. 917, doi. 10.1177/10556656221148902
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- Article
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
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- Human Genetics, 2024, v. 143, n. 6, p. 739, doi. 10.1007/s00439-024-02677-y
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- Article
Analysis of prefabricated myofunctional appliances with different overjet and bumper designs: a three-dimensional finite element analysis.
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- BMC Oral Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12903-024-04325-3
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- Article
Detection of multidrug-resistant bacteria in the nasal cavities and evaluation of sinus disorders in patients undergoing Le Fort I osteotomy.
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- BMC Oral Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12903-024-04295-6
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- Article
Velopharyngeal Characteristics in Aarskog–Scott Syndrome: A Case Report.
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- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 5, p. 892, doi. 10.1177/10556656221141235
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- Article
Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.
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- 2024
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- Publication type:
- Case Study
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1436, doi. 10.1093/brain/awad380
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- Article
RUNX2‐related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4‐related Pyle disease.
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- Clinical Genetics, 2024, v. 105, n. 4, p. 434, doi. 10.1111/cge.14474
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- Article
Health‐related quality of life, jaw function and sleep‐disordered breathing among patients with dentofacial deformity.
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- Journal of Oral Rehabilitation, 2024, v. 51, n. 4, p. 684, doi. 10.1111/joor.13619
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- Article
A rare case of huge frontoethmoidal encephalocele projecting through mouth, with cleft palate.
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- Saudi Journal of Anaesthesia, 2024, v. 18, n. 2, p. 283, doi. 10.4103/sja.sja_748_23
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- Article
Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.
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- 2024
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- Publication type:
- Case Study
PCNA Unloading Is Crucial for the Bypass of DNA Lesions Using Homologous Recombination.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3359, doi. 10.3390/ijms25063359
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- Article
A Unique Appliance for Median Facial Cleft Management With Sleep Apnea due to Undeveloped Nasal Septum: A Rare Case Report.
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- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 3, p. 523, doi. 10.1177/10556656221131896
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- Article
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
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- Human Genetics, 2024, v. 143, n. 3, p. 437, doi. 10.1007/s00439-024-02656-3
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- Article
Interdisciplinary Management of an Adolescent Cleft Patient with Skeletal Class III Malocclusion: A Case Report.
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- Journal of Clinical & Diagnostic Research, 2024, v. 18, n. 3, p. 5, doi. 10.7860/JCDR/2024/67447.19094
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- Article
SATB2-associated syndrome: a case report.
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- Journal of Oral Medicine & Oral Surgery, 2024, v. 30, n. 1, p. 1, doi. 10.1051/mbcb/2024003
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- Article
Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes.
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- Life (2075-1729), 2024, v. 14, n. 3, p. 297, doi. 10.3390/life14030297
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- Article
Emanuel syndrome due to unusual pattern.
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- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00494-6
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- Article
The third case of Marbach‐Rustad progeroid syndrome caused by a de novo LEMD2 variant.
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- Clinical Genetics, 2024, v. 105, n. 2, p. 209, doi. 10.1111/cge.14441
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- Article
Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.
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- European Journal of Endocrinology, 2024, v. 190, n. 2, p. 151, doi. 10.1093/ejendo/lvae009
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- Article
A Scoping Review of the Role and Limitations of Surgical Versus Non-Surgical Management of Dentofacial Deformities.
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- European Journal of Therapeutics, 2024, v. 30, n. 1, p. 75, doi. 10.58600/eurjther1933
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- Article
Cranio-Facial Characteristics in Autism Spectrum Disorder: A Scoping Review.
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- Journal of Clinical Medicine, 2024, v. 13, n. 3, p. 729, doi. 10.3390/jcm13030729
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- Article
A Delayed Diagnosis Case of a Patient with Treacher Collins syndrome.
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- Gazi Medical Journal, 2024, v. 35, p. 70
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- Article
Eruptive Syringoma in a Case of Mucopolysaccharidosis Type IIIB-Sanfilippo B.
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- Indian Journal of Paediatric Dermatology, 2024, v. 25, n. 1, p. 34, doi. 10.4103/ijpd.ijpd_55_23
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- Article
Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2281
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- Article
Indications and use of cone beam computed tomography in children and young individuals in a university-based dental hospital.
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- BMC Oral Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12903-023-03784-4
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- Article
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5031, doi. 10.1093/brain/awad257
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- Article
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features.
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- Genes, 2023, v. 14, n. 12, p. 2194, doi. 10.3390/genes14122194
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- Article
Clinical heterogeneity of polish patients with KAT6B–related disorder.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2265
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- Article
Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2268
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- Article
Diffuse meningeal melanomatosis with congenital facial nevus in an adult.
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- 2023
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- Publication type:
- Case Study
Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1243540
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- Article
The effect of myotonic dystrophy type 1 on temporomandibular joint and dentofacial morphology: A CBCT analysis.
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- Journal of Oral Rehabilitation, 2023, v. 50, n. 10, p. 958, doi. 10.1111/joor.13533
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- Article
Movement Disorders in PURA Syndrome: A Video Case Series.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 10, p. 1542, doi. 10.1002/mdc3.13804
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- Article
Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report.
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- Clinical Medicine Insights: Pediatrics, 2023, p. 1, doi. 10.1177/11795565231200130
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- Article
Comparison of invisalign mandibular advancement and twin-block on upper airway and hyoid bone position improvements for skeletal class II children: a retrospective study.
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- BMC Oral Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12903-023-03295-2
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- Article
Pulmonary alveolar proteinosis in the course of ICF type 2 syndrome.
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- Acta Haematologica Polonica, 2023, v. 54, n. 5, p. 302, doi. 10.5603/ahp.95371
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- Article
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
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- Biomedicines, 2023, v. 11, n. 9, p. 2402, doi. 10.3390/biomedicines11092402
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- Article
Long‐term clinical course of Heyn‐Sproul‐Jackson syndrome.
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- Congenital Anomalies, 2023, v. 63, n. 5, p. 174, doi. 10.1111/cga.12532
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- Publication type:
- Article
Associations between temporomandibular disorders, pain, jaw and masticatory function in dentofacial deformity patients: A cross‐sectional study.
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- Journal of Oral Rehabilitation, 2023, v. 50, n. 9, p. 746, doi. 10.1111/joor.13483
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- Publication type:
- Article
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
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- 2023
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- Publication type:
- Case Study
A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome.
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- 2023
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- Publication type:
- Case Study
A deep learning framework to scale linear facial measurements to actual size using horizontal visible iris diameter: a study on an Iranian population.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40839-6
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- Article
Compound heterozygous variants in WLS gene causes Zaki syndrome.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 226, doi. 10.1111/cge.14334
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- Article
Genetic analysis of a child with SATB2-associated syndrome and literature study.
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- Experimental & Therapeutic Medicine, 2023, v. 26, n. 2, p. 1, doi. 10.3892/etm.2023.12071
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- Article
A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 8, p. 1, doi. 10.1002/mgg3.2227
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- Publication type:
- Article