Found: 80
Select item for more details and to access through your institution.
Severe Developmental Delay and Behavior Abnormalities in a Patient with De Novo CAMK2B Mutation: A Case Report and Literature Review.
- Published in:
- Annals of Indian Academy of Neurology, 2024, v. 27, n. 4, p. 430, doi. 10.4103/aian.aian_118_24
- By:
- Publication type:
- Article
Isolated sulfite oxidase deficiency: a founder mutation.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 6, p. 1, doi. 10.1101/mcs.a005900
- By:
- Publication type:
- Article
Nephrological and urological complications of homozygous c.974G>A (p.Arg325Gln) OSGEP mutations.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 11, p. 2201, doi. 10.1007/s00467-018-4060-x
- By:
- Publication type:
- Article
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
- Published in:
- Journal of Investigative Medicine High Impact Case Reports, 2021, p. 1, doi. 10.1177/23247096211022484
- By:
- Publication type:
- Article
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.
- Published in:
- Journal of Investigative Medicine High Impact Case Reports, 2021, p. 1, doi. 10.1177/23247096211022484
- By:
- Publication type:
- Article
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Neonatal hyperinsulinism—broadening the differential diagnosis.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
In vivo investigation of gingival health and oxidative stress changes in patients undergoing orthodontic treatment with and without fluoride use.
- Published in:
- Journal of Indian Society of Periodontology, 2022, v. 26, n. 2, p. 123, doi. 10.4103/jisp.jisp_562_20
- By:
- Publication type:
- Article
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.
- Published in:
- Patient, 2022, v. 15, n. 2, p. 171, doi. 10.1007/s40271-021-00538-8
- By:
- Publication type:
- Article
Benign reactive lymphadenopathy associated with submandibular gland enlargement during orthodontic treatment.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Cohesin complex-associated holoprosencephaly.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Bulging anterior fontanelle and dense bones in an infant.
- Published in:
- 2020
- By:
- Publication type:
- Case Study
Eight-year-old girl with hepatomegaly.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.
- Published in:
- Paediatrics & Child Health (1205-7088), 2012, v. 17, n. 4, p. 185, doi. 10.1093/pch/17.4.185
- By:
- Publication type:
- Article
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation.
- Published in:
- Nature Genetics, 2004, v. 36, n. 10, p. 1053, doi. 10.1038/ng1420
- By:
- Publication type:
- Article
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
- Published in:
- BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0323-x
- By:
- Publication type:
- Article
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Alleviation of Lower Anterior Crowding with Super-Elastic and Heat-Activated NiTi Wires: A Prospective Clinical Trial.
- Published in:
- Turkish Journal of Orthodontics, 2021, v. 34, n. 2, p. 127, doi. 10.5152/TurkJOrthod.2021.20084
- By:
- Publication type:
- Article
Hemolytic uremic syndrome (HUS) secondary to cobalamin C ( cblC) disorder.
- Published in:
- Pediatric Nephrology, 2007, v. 22, n. 12, p. 2097, doi. 10.1007/s00467-007-0604-1
- By:
- Publication type:
- Article
A Comparative Analysis of DSLR and Mirrorless Cameras for Dental Photography.
- Published in:
- Journal of Indian Orthodontic Society, 2024, v. 58, n. 2, p. 158, doi. 10.1177/03015742241226517
- By:
- Publication type:
- Article
Short-term Volumetric and Minimal Area Changes in the Pharyngeal Airway After Use of a Fixed Functional Appliance: A Three-dimensional CBCT Investigation.
- Published in:
- Journal of Indian Orthodontic Society, 2023, v. 57, n. 4, p. 252, doi. 10.1177/03015742231189054
- By:
- Publication type:
- Article
A Clinical Audit of Cross-Infection Control Practices in Orthodontic Setups During the COVID-19 Scenario.
- Published in:
- Journal of Indian Orthodontic Society, 2022, v. 56, n. 4, p. 334, doi. 10.1177/03015742211073755
- By:
- Publication type:
- Article
In Vivo Evaluation of Micronucleus Frequencies in Buccal Mucosal Cells of Orthodontic Patients with and Without Fluoride Use.
- Published in:
- Journal of Indian Orthodontic Society, 2022, v. 56, n. 3, p. 274, doi. 10.1177/03015742211037307
- By:
- Publication type:
- Article
An Umbrella Review of Systematic Reviews With or Without Meta-Analysis Assessing Treatment Outcomes and Efficiency of Self-Ligating Brackets.
- Published in:
- Journal of Indian Orthodontic Society, 2022, v. 56, n. 2, p. 111, doi. 10.1177/03015742221095296
- By:
- Publication type:
- Article
Torque Comparison Between Two Passive Self-Ligating Brackets with Respect to Interbracket Wire Dimensions and Types: A Finite Element Analysis.
- Published in:
- Journal of Indian Orthodontic Society, 2022, v. 56, n. 2, p. 164, doi. 10.1177/03015742211029610
- By:
- Publication type:
- Article
An Instrument for Seating Orthodontic Archwires.
- Published in:
- Journal of Indian Orthodontic Society, 2021, v. 55, n. 4, p. 426, doi. 10.1177/03015742211018077
- By:
- Publication type:
- Article
In Vivo Comparison of Ultimate Tensile Strength and Surface Topography of Three Different Nickel-Titanium Archwires.
- Published in:
- Journal of Indian Orthodontic Society, 2021, v. 55, n. 4, p. 399, doi. 10.1177/0301574221990131
- By:
- Publication type:
- Article
A new combination mirror with template for intraoral photography.
- Published in:
- Journal of Indian Orthodontic Society, 2016, v. 50, n. 1, p. 61, doi. 10.4103/0301-5742.175735
- By:
- Publication type:
- Article
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07193-y
- By:
- Publication type:
- Article
Photogrammetric Correlation of Face with Frontal Radiographs and Direct Measurements.
- Published in:
- Journal of Clinical & Diagnostic Research, 2017, v. 11, n. 5, p. 79, doi. 10.7860/JCDR/2017/28249.9924
- By:
- Publication type:
- Article
Rapid Maxillary Expansion to Correct Palatal Fracture Malunion: A Case Report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Altered Passive Eruption Complicating Optimal Orthodontic Bracket Placement: A Case Report and Review of Literature.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Modified SARME (Surgically Assisted Rapid Maxillary Expansion) in Conjunction with Orthodontic Treatment-A Case Report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Seizures Related to Hypomagnesemia: A Case Series and Review of the Literature.
- Published in:
- Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X16674834
- By:
- Publication type:
- Article
Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non‐immune hydrops fetalis in a twin pregnancy for a consanguineous couple.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Magnetic resonance imaging in the diagnosis of white matter signal abnormalities.
- Published in:
- Neuroradiology Journal, 2018, v. 31, n. 4, p. 362, doi. 10.1177/1971400918764016
- By:
- Publication type:
- Article
Perceptions of facial proportions and lip competency on facial attractiveness among people of Telangana origin.
- Published in:
- Journal of Dr. NTR University of Health Sciences, 2019, v. 8, n. 3, p. 183, doi. 10.4103/JDRNTRUHS.JDRNTRUHS_9_19
- By:
- Publication type:
- Article
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0548-2
- By:
- Publication type:
- Article
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
CHARGE syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2006, v. 1, p. 34, doi. 10.1186/1750-1172-1-34
- By:
- Publication type:
- Article
Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 139, doi. 10.1007/s10545-015-9881-1
- By:
- Publication type:
- Article
Transcobalamin (TC) deficiency and newborn screening.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Kidney disease and organ transplantation in methylmalonic acidaemia.
- Published in:
- Pediatric Transplantation, 2019, v. 23, n. 4, p. N.PAG, doi. 10.1111/petr.13407
- By:
- Publication type:
- Article
Risk factors for nonsyndromic holoprosencephaly: A Manitoba case-control study.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 751, doi. 10.1002/ajmg.a.35240
- By:
- Publication type:
- Article
Asymptomatic critical hypoglycaemia: a dangerous presentation of glycogen storage disease type Ib in infancy.
- Published in:
- Acta Paediatrica, 2011, v. 100, n. 9, p. e130, doi. 10.1111/j.1651-2227.2011.02208.x
- By:
- Publication type:
- Article
9 YEAR OLD GIRL WITH PROGRESSIVE WEAKNESS.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Airway changes in patients with sleep apnea using AdvanSync2 Class II correctors - a case series.
- Published in:
- Medicine & Pharmacy Reports: Clujul Medical, 2022, v. 95, n. 3, p. 337, doi. 10.15386/mpr-1922
- By:
- Publication type:
- Article
Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 57, n. 1, p. 9, doi. 10.1002/jmd2.12171
- By:
- Publication type:
- Article