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Identification of DCAF1 by Clinical Exome Sequencing and Methylation Analysis as a Candidate Gene for Autism and Intellectual Disability: A Case Report.
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- Journal of Personalized Medicine, 2022, v. 12, n. 6, p. 886, doi. 10.3390/jpm12060886
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- Article
Multidisciplinary Consulting Team for Complicated Cases of Neurodevelopmental and Neurobehavioral Disorders: Assessing the Opportunities and Challenges of Integrating Pharmacogenomics into a Team Setting.
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- Journal of Personalized Medicine, 2022, v. 12, n. 4, p. 599, doi. 10.3390/jpm12040599
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- Publication type:
- Article
Molecular Dysregulation in Autism Spectrum Disorder.
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- Journal of Personalized Medicine, 2021, v. 11, n. 9, p. 848, doi. 10.3390/jpm11090848
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- Article
Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.
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- Journal of Personalized Medicine, 2021, v. 11, n. 5, p. 394, doi. 10.3390/jpm11050394
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- Article
Quantitation of fibrillin immunofluorescence in fibroblast cultures in the Marfan syndrome.
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- Clinical Genetics, 1995, v. 47, n. 3, p. 144, doi. 10.1111/j.1399-0004.1995.tb03947.x
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- Article
Clinical Genetic Aspects of ASD Spectrum Disorders.
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- International Journal of Molecular Sciences, 2016, v. 17, n. 2, p. 180, doi. 10.3390/ijms17020180
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- Article
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 853, doi. 10.1007/s00439-021-02340-w
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- Article
In memory of Murray Feingold (1930-2015).
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1727, doi. 10.1002/ajmg.a.37729
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- Article
Myhre Syndrome: Clinical Features and Restrictive Cardiopulmonary Complications.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2893, doi. 10.1002/ajmg.a.37273
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- Article
Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2168, doi. 10.1002/ajmg.a.37126
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- Publication type:
- Article
Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 1998, doi. 10.1002/ajmg.a.36601
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- Article
Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1285, doi. 10.1002/ajmg.a.35347
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- Publication type:
- Article
Regulation of MMP-9 (92 kDa type IV collagenase/gelatinase B) expression in stromal cells of human giant cell tumor of bone.
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- Clinical & Experimental Metastasis, 1997, v. 15, n. 4, p. 400, doi. 10.1023/A:1018450204980
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- Publication type:
- Article
Pathogenic in-Frame Variants in SCN8A : Expanding the Genetic Landscape of SCN8A- Associated Disease.
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- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.748415
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- Article
Turner syndrome.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 10, p. 812, doi. 10.1177/014556139807701006
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- Article
Kabuki Syndrome.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 9, p. 734, doi. 10.1177/014556139807700909
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- Publication type:
- Article
Oto-palatal-digital syndromes.
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- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 8, p. 586, doi. 10.1177/014556139807700806
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- Publication type:
- Article
Craniofrontonasal Dysplasia.
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- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 2, p. 90, doi. 10.1177/014556139807700205
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- Publication type:
- Article
Oculo-auriculo-vertebral spectrum.
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- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 1, p. 17, doi. 10.1177/014556139807700105
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- Publication type:
- Article
Van der Woude syndrome.
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- ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 12, p. 852, doi. 10.1177/014556139707601204
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- Publication type:
- Article
Oral-Facial-Digital Syndrome Type I.
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- ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 11, p. 778, doi. 10.1177/014556139707601104
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- Publication type:
- Article
Stickler syndrome.
- Published in:
- ENT: Ear, Nose & Throat Journal, 1997, v. 76, n. 10, p. 706, doi. 10.1177/014556139707601005
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- Publication type:
- Article
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.
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- Cleft Palate Craniofacial Journal, 2015, v. 52, n. 2, p. 237, doi. 10.1597/13-221
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- Article
Knowledge and Beliefs About Genetics and Smoking Among Visitors and Staff at a Health Care Facility.
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- Public Health Nursing, 2008, v. 25, n. 1, p. 77, doi. 10.1111/j.1525-1446.2008.00682.x
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- Publication type:
- Article
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 754, doi. 10.1038/ejhg.2012.6
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- Publication type:
- Article
Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.
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- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 951, doi. 10.1515/jpem-2013-0484
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- Publication type:
- Article
Multi-Tiered Analysis of Brain Injury in Neonates With Congenital Heart Disease.
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- Pediatric Cardiology, 2013, v. 34, n. 8, p. 1772, doi. 10.1007/s00246-013-0712-6
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- Publication type:
- Article
Idiopathic Hypothalamic Dysfunction with Precocious Puberty and Adipsic Hypernatremia First Presenting in Adolescence.
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- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 8, p. 1163, doi. 10.1515/jpem-2001-0816
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- Publication type:
- Article
Subtle anomalies of the septum pellucidum and neurodevelopmental deficits.
- Published in:
- 1994
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- Publication type:
- journal article
Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
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- Clinical Case Reports, 2016, v. 4, n. 7, p. 696, doi. 10.1002/ccr3.598
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- Article
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 4, p. 465, doi. 10.1002/mgg3.219
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- Article
Incidental pineal cysts in a prospectively ascertained normal cohort.
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- Clinical Pediatrics, 1996, v. 35, n. 5, p. 277, doi. 10.1177/000992289603500510
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- Publication type:
- Article
Physician collaboration involving students with Autism Spectrum Disorders.
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- Psychology in the Schools, 2007, v. 44, n. 7, p. 737, doi. 10.1002/pits.20262
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- Article
Algorithmic Approach for Methyl-CpG Binding Protein 2 (MECP2) Gene Testing in Patients With Neurodevelopmental Disabilities.
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- Journal of Child Neurology, 2012, v. 27, n. 3, p. 346, doi. 10.1177/0883073811424796
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- Publication type:
- Article
Array Comparative Genomic Hybridization Findings in a Cohort Referred for an Autism Evaluation.
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- Journal of Child Neurology, 2010, v. 25, n. 12, p. 1498, doi. 10.1177/0883073810370479
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- Article
Neurocutaneous Disorders.
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- 2007
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- Publication type:
- Book Review
Ontogeny and Physiology of the Cavum Septum Pellucidum in Premature Infants.
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- Journal of Child Neurology, 2006, v. 21, n. 4, p. 298, doi. 10.1177/08830738060210041501
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- Publication type:
- Article
Hypotonia, Congenital Hearing Loss, and Hypoactive Labyrinths.
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- Journal of Child Neurology, 2003, v. 18, n. 3, p. 171, doi. 10.1177/08830738030180030701
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- Publication type:
- Article
Oxford Medical Database (Book).
- Published in:
- 2002
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- Publication type:
- Book Review
Cavum Septi Pellucidi and Cavum Vergae in Normal and Developmentally Delayed Populations.
- Published in:
- Journal of Child Neurology, 1998, v. 13, n. 3, p. 120
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- Publication type:
- Article
Book Review: Growth Disorders: The State of the Art. Serono Symposia Publications, Vol 81, edited by Luciano Cavallo, Jean Claude Job, and Maria I. New. Published in 1991 by Raven Press, New York, 388 pages, $110.50.
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- Journal of Child Neurology, 1993, v. 8, n. 2, p. 193, doi. 10.1177/088307389300800221
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- Publication type:
- Article
Correspondence.
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- Journal of Child Neurology, 1991, v. 6, n. 4, p. 372, doi. 10.1177/088307389100600414
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- Publication type:
- Article
Age-Related Changes in the Relative Growth of the Posterior Fossa.
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- Journal of Child Neurology, 1991, v. 6, n. 1, p. 15, doi. 10.1177/088307389100600103
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- Publication type:
- Article
Hypoplastic Corpus Callosum in Ocular Albinism: Indication of a Global Disturbance of Neuronal Migration.
- Published in:
- Journal of Child Neurology, 1990, v. 5, n. 4, p. 341, doi. 10.1177/088307389000500415
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- Publication type:
- Article
Neuroimaging Findings in Alexander's Disease.
- Published in:
- Journal of Child Neurology, 1990, v. 5, n. 3, p. 253, doi. 10.1177/088307389000500321
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- Publication type:
- Article
Quantitative Morphometric Analysis of Brain Growth Using Magnetic Resonance Imaging.
- Published in:
- Journal of Child Neurology, 1990, v. 5, n. 2, p. 127, doi. 10.1177/088307389000500211
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- Publication type:
- Article
Cleft Lip and Palate: Association with Other Congenital Malformations.
- Published in:
- Journal of Clinical Pediatric Dentistry, 2009, v. 33, n. 3, p. 207, doi. 10.17796/jcpd.33.3.c244761467507721
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- Publication type:
- Article
Cleft lip and palate: association with other congenital malformations.
- Published in:
- 2009
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- Publication type:
- journal article
Hypoplasia of the cerebellar vermis in neurogenetic syndromes.
- Published in:
- Annals of Neurology, 1996, v. 39, n. 3, p. 382, doi. 10.1002/ana.410390316
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- Publication type:
- Article
Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.
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- Cytogenetic & Genome Research, 2016, v. 147, n. 1, p. 31, doi. 10.1159/000441585
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- Publication type:
- Article