Found: 29
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Copy Number Variants and Congenital Anomalies Surveillance: A Suggested Coding Strategy Using the Royal College of Paediatrics and Child Health Version of ICD-10.
- Published in:
- Journal of Registry Management, 2016, v. 43, n. 1, p. 6
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- Publication type:
- Article
Ulerythema Ophryogenes, A Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature.
- Published in:
- Journal of Cutaneous Medicine & Surgery, 2013, v. 17, n. 3, p. 212, doi. 10.2310/7750.2011.11017
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- Publication type:
- Article
Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1‐ and NEB‐related congenital myopathies.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 522, doi. 10.1002/pd.6553
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- Publication type:
- Article
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 2, p. 237, doi. 10.1002/pd.6424
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- Publication type:
- Article
Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype.
- Published in:
- 2017
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- Publication type:
- journal article
THE EFFECT OF RESIDENTIAL DEVELOPMENT ON GROUND-WATER QUALITY NEAR DETROIT, MICHIGAN.
- Published in:
- Journal of the American Water Resources Association, 2000, v. 36, n. 5, p. 1023, doi. 10.1111/j.1752-1688.2000.tb05707.x
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- Publication type:
- Article
Connexin Mutation Testing of Children with Nonsyndromic, Autosomal Recessive Sensorineural Hearing Loss.
- Published in:
- Journal of Otolaryngology, 2004, v. 33, n. 3, p. 189, doi. 10.2310/7070.2004.00189
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- Publication type:
- Article
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 4, p. 547, doi. 10.1111/cge.13912
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- Publication type:
- Article
Anesthetic efficacy of 4% articaine versus 2% lignocaine in root canal treatment of teeth with molar incisor hypomineralization.
- Published in:
- Journal of the Indian Society of Pedodontics & Preventive Dentistry, 2023, v. 41, n. 4, p. 316, doi. 10.4103/jisppd.jisppd_375_23
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- Publication type:
- Article
The importance of investigating an apparently simple Yq deletion detected prenatally.
- Published in:
- 2005
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- Publication type:
- case study
Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism.
- Published in:
- 2020
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- Publication type:
- case study
A LMNA Splicing Mutation in Two Sisters with Severe Dunnigan-Type Familial Partial Lipodystrophy Type 2.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 7, p. 2689, doi. 10.1210/jc.2005-2746
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- Publication type:
- Article
Publicly funded healthcare costs associated with orofacial clefts for children born in Alberta, Canada between 2002 and 2018.
- Published in:
- Birth Defects Research, 2024, v. 116, n. 3, p. 1, doi. 10.1002/bdr2.2295
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- Publication type:
- Article
Parietal bone agenesis and athelia in retinoic acid embryopathy: An expansion of the phenotype.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 1, p. 17, doi. 10.1002/bdr2.1965
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- Publication type:
- Article
Perceptions of e-learning among medical students during COVID-19 pandemic in a medical institution, Kerala.
- Published in:
- Turkish Journal of Public Health, 2021, v. 19, n. 3, p. 235, doi. 10.20518/tjph.848138
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- Publication type:
- Article
The Alberta Congenital Anomalies Surveillance System: a 40-year review with prevalence and trends for selected congenital anomalies, 1997-2019.
- Published in:
- Health Promotion & Chronic Disease Prevention in Canada, 2023, v. 43, n. 1, p. 40, doi. 10.24095/hpcdp.43.1.04
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- Publication type:
- Article
Menstrual Practices among Medical Students in a Tertiary Care Teaching Hospital in Central Kerala.
- Published in:
- Indian Journal of Public Health Research & Development, 2023, v. 14, n. 4, p. 178, doi. 10.37506/ijphrd.v14i4.19788
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- Publication type:
- Article
Immunisation Status of Under Five Children in a Tribal Colony of Northern Kerala.
- Published in:
- Indian Journal of Public Health Research & Development, 2021, v. 12, n. 4, p. 23, doi. 10.37506/ijphrd.v12i4.16507
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- Publication type:
- Article
Monozygotic twins with variable expression of Van der Woude Syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 2008, doi. 10.1002/ajmg.a.34022
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- Publication type:
- Article
The Alberta Congenital Anomalies Surveillance System: a 40-year review with prevalence and trends for selected congenital anomalies, 1997-2019.
- Published in:
- Promotion de la Santé et Prévention des Maladies Chroniques au Canada, 2023, v. 43, n. 1, p. 40, doi. 10.24095/hpcdp.43.1.04
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- Publication type:
- Article
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0179-7
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- Publication type:
- Article
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0179-7
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- Publication type:
- Article
Distinguishing Iron-Reducing from Sulfate-Reducing Conditions.
- Published in:
- Ground Water, 2009, v. 47, n. 2, p. 300, doi. 10.1111/j.1745-6584.2008.00536.x
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- Publication type:
- Article
Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997–2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63594
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- Publication type:
- Article
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3040, doi. 10.1002/ajmg.a.61898
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- Publication type:
- Article
Prevalence rates study of selected isolated non‐Mendelian congenital anomalies in the Hutterite population of Alberta, 1980–2016.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2594, doi. 10.1002/ajmg.a.61834
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- Publication type:
- Article
Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2984, doi. 10.1002/ajmg.a.37695
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- Publication type:
- Article
9p13.1p13.3 interstitial deletion: A case report and further delineation of a rare condition.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1095, doi. 10.1002/ajmg.a.37534
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- Publication type:
- Article
Effects of Brief Depression and Anxiety Management Training on a US Army Division's Primary Care Providers.
- Published in:
- 2020
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- Publication type:
- journal article