Found: 27
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Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 1, p. 55, doi. 10.1002/ajmg.c.31882
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- Article
Genetic Differentials of Child Abuse: Is Your Case Rare or Real?
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 4, p. 281, doi. 10.1002/ajmg.c.31464
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- Publication type:
- Article
The Clinical Geneticist and the Evaluation of Failure to Thrive Versus Failure to Feed.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 4, p. 337, doi. 10.1002/ajmg.c.31465
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- Article
The past, present, and future of child growth monitoring: A review and primer for clinical genetics.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 948, doi. 10.1002/ajmg.a.63102
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- Article
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 500, doi. 10.1002/ajmg.a.62000
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- Publication type:
- Article
Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 134, doi. 10.1002/ajmg.a.61930
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- Article
Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 68, doi. 10.1002/ajmg.a.61911
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- Publication type:
- Article
Invited commentary: His life was lost but his heart still beats: In honor of children harmed by child abuse.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2329, doi. 10.1002/ajmg.a.61348
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- Publication type:
- Article
Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers–Danlos syndrome infant fragility theory should not rule.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2335, doi. 10.1002/ajmg.a.61347
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- Publication type:
- Article
A case of broken bones and systems: The threat of irresponsible testimony.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 429, doi. 10.1002/ajmg.a.61043
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- Publication type:
- Article
After Angelina and the Supreme Court Decision, where do we go from here? BRCA gene testing in Rhode Island's Portuguese population.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 557, doi. 10.1002/ajmg.a.36254
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- Publication type:
- Article
A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 50, doi. 10.1002/ajmg.a.34290
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- Publication type:
- Article
Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications.
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- Cleft Palate Craniofacial Journal, 2021, v. 58, n. 4, p. 514, doi. 10.1177/1055665620954751
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- Article
Genetic Syndromes: From Clinical Suspicion to Referral to Diagnosis.
- Published in:
- Pediatric Annals, 2009, v. 38, n. 8, p. 419, doi. 10.3928/00904481-20090723-04
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- Publication type:
- Article
Society for Pediatric Radiology (SPR) Child Abuse Committee response regarding Miller, Stolfi and Ayoub's flawed theories about child abuse and metabolic bone disease.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 4, p. 547, doi. 10.1515/jpem-2019-0544
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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
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
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- 2017
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- Publication type:
- journal article
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 24, p. 4849, doi. 10.1093/hmg/ddx363
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- Publication type:
- Article
The Role of New Genetic Technology in Investigating Autism and Developmental Delay.
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- 2011
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- Case Study
The real tiger mother: From the clinical geneticist's perspective.
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- 2011
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- Publication type:
- Other
Front Cover, Volume 43, Issue 10.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. i, doi. 10.1002/humu.24464
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- Publication type:
- Article
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1472, doi. 10.1002/humu.24435
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- Publication type:
- Article
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 445, doi. 10.1002/humu.24176
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- Publication type:
- Article
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation.
- Published in:
- Human Mutation, 2019, v. 40, n. 6, p. 816, doi. 10.1002/humu.23742
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- Publication type:
- Article
Genetic causes of fractures and subdural hematomas: fact versus fiction.
- Published in:
- 2021
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- Publication type:
- journal article
Ehlers-Danlos syndrome: what the radiologist needs to know.
- Published in:
- 2021
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- Publication type:
- journal article
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 43, doi. 10.1007/s10048-015-0466-9
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- Publication type:
- Article