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Longitudinal Bedside Assessments of Brain Networks in Disorders of Consciousness: Case Reports From the Field.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00676
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- Publication type:
- Article
Pattern of injuries and management of adolescent trauma in a combined adult and paediatric major trauma centre in United Kingdom.
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- Trauma, 2021, v. 23, n. 1, p. 44, doi. 10.1177/1460408620921709
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- Publication type:
- Article
Dr. Anne M. Summers MD, FRCPC, FCCMG: October 16, 1954–March 14, 2009.
- Published in:
- 2009
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- Publication type:
- Obituary
Turner syndrome in a mother and daughter: r(X) and fertility.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 3, p. 187, doi. 10.1111/j.1399-0004.1997.tb02543.x
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- Publication type:
- Article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-63
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- Publication type:
- Article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
- Published in:
- 2013
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- Publication type:
- journal article
Whole-brain modelling identifies distinct but convergent paths to unconsciousness in anaesthesia and disorders of consciousness.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03330-y
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- Publication type:
- Article
Nablus syndrome: Easy to diagnose yet difficult to solve.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 447, doi. 10.1002/ajmg.c.31660
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- Publication type:
- Article
Personal journeys to and in human genetics and dysmorphology.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514
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- Publication type:
- Article
Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2570, doi. 10.1002/ajmg.a.37736
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- Publication type:
- Article
The third international meeting on genetic disorders in the RAS/MAPK pathway: Towards a therapeutic approach.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1741, doi. 10.1002/ajmg.a.37089
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- Publication type:
- Article
Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: A matched case-control study.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1525, doi. 10.1002/ajmg.a.37069
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- Publication type:
- Article
Elements of morphology: General terms for congenital anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2726, doi. 10.1002/ajmg.a.36249
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- Publication type:
- Article
Elements of morphology: Standard terminology for the external genitalia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1238, doi. 10.1002/ajmg.a.35934
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- Publication type:
- Article
Special section. Syndrome-specific growth charts.
- Published in:
- 2012
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- Publication type:
- Editorial
The complex craniofacial signature of fibrodysplasia ossificans progressiva: Whose handwriting is it?
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2979, doi. 10.1002/ajmg.a.35616
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- Publication type:
- Article
Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2393, doi. 10.1002/ajmg.a.35561
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- Publication type:
- Article
Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2091, doi. 10.1002/ajmg.a.35446
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- Publication type:
- Article
Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1452, doi. 10.1002/ajmg.a.35354
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- Publication type:
- Article
The face signature of fibrodysplasia ossificans progressiva.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1368, doi. 10.1002/ajmg.a.35346
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- Publication type:
- Article
Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1262, doi. 10.1002/ajmg.a.35286
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- Publication type:
- Article
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1020, doi. 10.1002/ajmg.a.35285
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- Publication type:
- Article
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 4, p. 405, doi. 10.1038/ng1319
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- Publication type:
- Article
THE ROLE OF REDUCED EAR SIZE IN THE PRENATAL DETECTION OF CHROMOSOMAL ABNORMALITIES.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 6, p. 545, doi. 10.1002/(SICI)1097-0223(199706)17:6<545::AID-PD108>3.0.CO;2-3
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- Publication type:
- Article
Unusual segregation for 11q;22q parental translocation.
- Published in:
- 1993
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- Publication type:
- Case Study
Opposite effects on facial morphology due to gene dosage sensitivity.
- Published in:
- Human Genetics, 2014, v. 133, n. 9, p. 1117, doi. 10.1007/s00439-014-1455-z
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- Publication type:
- Article
GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians.
- Published in:
- Family Practice, 2011, v. 28, n. 6, p. 615, doi. 10.1093/fampra/cmr040
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- Publication type:
- Article
The primary care physician role in cancer genetics: a qualitative study of patient experience.
- Published in:
- Family Practice, 2010, v. 27, n. 5, p. 563, doi. 10.1093/fampra/cmq035
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- Publication type:
- Article
Expectations and values about expanded newborn screening: a public engagement study.
- Published in:
- Health Expectations, 2015, v. 18, n. 3, p. 419, doi. 10.1111/hex.12047
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- Publication type:
- Article
Consciousness-specific dynamic interactions of brain integration and functional diversity.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12658-9
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- Publication type:
- Article
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1640, doi. 10.1038/ejhg.2015.38
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- Publication type:
- Article
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
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- Publication type:
- Article
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 54, doi. 10.1038/ejhg.2014.51
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- Publication type:
- Article
Public views on participating in newborn screening using genome sequencing.
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- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1248, doi. 10.1038/ejhg.2014.22
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- Publication type:
- Article
Health-care providers' views on pursuing reproductive benefit through newborn screening: the case of sickle cell disorders.
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- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 498, doi. 10.1038/ejhg.2011.188
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- Publication type:
- Article
Understanding sickle cell carrier status identified through newborn screening: a qualitative study.
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- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 303, doi. 10.1038/ejhg.2009.173
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- Publication type:
- Article
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 420, doi. 10.1038/ejhg.2008.188
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- Publication type:
- Article
Prolonged disorders of consciousness: A response to a "critical evaluation of the new UK guidelines.".
- Published in:
- Clinical Rehabilitation, 2022, v. 36, n. 9, p. 1267, doi. 10.1177/02692155221099704
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- Publication type:
- Article
Primary care role in expanded newborn screening: After the heel prick test.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A synergistic workspace for human consciousness revealed by Integrated Information Decomposition.
- Published in:
- eLife, 2024, p. 1, doi. 10.7554/eLife.88173
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- Publication type:
- Article
Informing Integration of Genomic Medicine Into Primary Care: An Assessment of Current Practice, Attitudes, and Desired Resources.
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01189
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- Publication type:
- Article
Fractal dimension of cortical functional connectivity networks & severity of disorders of consciousness.
- Published in:
- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0223812
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- Publication type:
- Article
Spectral Signatures of Reorganised Brain Networks in Disorders of Consciousness.
- Published in:
- PLoS Computational Biology, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pcbi.1003887
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- Publication type:
- Article
Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects.
- Published in:
- Canadian Medical Association Journal (CMAJ), 1993, v. 149, n. 9, p. 1239
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- Publication type:
- Article
The Role of Women's Relationships With Their Partners in Their Adjustment Following Prenatal Genetic Testing.
- Published in:
- Journal of Applied Social Psychology, 2008, v. 38, n. 2, p. 482, doi. 10.1111/j.1559-1816.2007.00314.x
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- Publication type:
- Article
Spectrum of outcomes following traumatic brain injury-relationship between functional impairment and health-related quality of life.
- Published in:
- Acta Neurochirurgica, 2018, v. 160, n. 1, p. 107, doi. 10.1007/s00701-017-3334-6
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- Publication type:
- Article
Rett syndrome: A study of the face.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1563, doi. 10.1002/ajmg.a.34027
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- Publication type:
- Article
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1217, doi. 10.1002/ajmg.a.33987
- By:
- Publication type:
- Article
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
- Published in:
- Human Mutation, 2016, v. 37, n. 2, p. 148, doi. 10.1002/humu.22924
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- Publication type:
- Article