Found: 62
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Muenke syndrome.
- Published in:
- Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 1, doi. 10.1097/01.MXE.0000456629.07295.8e
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- Publication type:
- Article
Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant.
- Published in:
- 2020
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- Publication type:
- letter
Cohesin complex-associated holoprosencephaly.
- Published in:
- 2019
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- Publication type:
- journal article
Prenatal diagnosis of diencephalic‐mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 6, p. 778, doi. 10.1002/pd.5909
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- Publication type:
- Article
Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.
- Published in:
- 2021
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- Publication type:
- journal article
Identifying environmental risk factors and gene–environment interactions in holoprosencephaly.
- Published in:
- Birth Defects Research, 2021, v. 113, n. 1, p. 63, doi. 10.1002/bdr2.1834
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- Publication type:
- Article
Noonan syndrome on the African Continent.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 10, p. 718, doi. 10.1002/bdr2.1675
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- Publication type:
- Article
Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 19, p. 1584, doi. 10.1002/bdr2.1609
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- Publication type:
- Article
Clinical epidemiology of congenital heart disease in Nigerian children, 2012–2017.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 16, p. 1233, doi. 10.1002/bdr2.1361
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- Publication type:
- Article
Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2018, v. 301, n. 6, p. 973, doi. 10.1002/ar.23791
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- Publication type:
- Article
Application of facial analysis Technology in Clinical Genetics: Considerations for diverse populations.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32059
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- Publication type:
- Article
Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 47, doi. 10.1002/ajmg.c.31779
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- Publication type:
- Article
Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 124, doi. 10.1002/ajmg.c.31772
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- Publication type:
- Article
The state of congenital heart disease.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 5, doi. 10.1002/ajmg.c.31776
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- Publication type:
- Article
Comorbidity of congenital heart defects and holoprosencephaly is likely genetically driven and gene‐specific.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 154, doi. 10.1002/ajmg.c.31770
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- Publication type:
- Article
The genetic workup for structural congenital heart disease.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 178, doi. 10.1002/ajmg.c.31759
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- Publication type:
- Article
The Turner syndrome research registry: Creating equipoise between investigators and participants.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 135, doi. 10.1002/ajmg.c.31689
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- Publication type:
- Article
The state of Turner syndrome science: Are we on the threshold of discovery?
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 1, p. 4, doi. 10.1002/ajmg.c.31688
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- Publication type:
- Article
Challenging issues arising in counseling families experiencing holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 238, doi. 10.1002/ajmg.c.31627
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- Publication type:
- Article
Introduction.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 113, doi. 10.1002/ajmg.c.31626
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- Publication type:
- Article
Holoprosencephaly from conception to adulthood.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 122, doi. 10.1002/ajmg.c.31624
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- Publication type:
- Article
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 175, doi. 10.1002/ajmg.c.31622
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- Publication type:
- Article
Holoprosencephaly flashcards: An updated summary for the clinician.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 117, doi. 10.1002/ajmg.c.31621
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- Publication type:
- Article
Syndromes associated with holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 229, doi. 10.1002/ajmg.c.31620
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- Publication type:
- Article
Molecular testing in holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 187, doi. 10.1002/ajmg.c.31617
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- Publication type:
- Article
Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 2, p. 246, doi. 10.1002/ajmg.c.31616
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- Publication type:
- Article
Novel heterozygous variants in KMT2D associated with holoprosencephaly.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 3, p. 266, doi. 10.1111/cge.13598
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- Publication type:
- Article
Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.
- Published in:
- 2020
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- Publication type:
- journal article
What is the differential diagnosis of chronic diarrhea in immunocompetent patients?
- Published in:
- Journal of Family Practice, 2002, v. 51, n. 3, p. 212
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- Publication type:
- Article
Does antiplatelet therapy prevent preeclampsia and its complications?
- Published in:
- Journal of Family Practice, 2001, v. 50, n. 5, p. 468
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- Publication type:
- Article
Intra-Arterial Prourokinase Effective for Acute Stroke Therapy.
- Published in:
- Journal of Family Practice, 2000, v. 49, n. 3, p. 267
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- Publication type:
- Article
Sexual Violence as a Contributor to Acute Pelvic Pain in Women.
- Published in:
- 2011
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- Publication type:
- Letter
Evaluation of Acute Pelvic Pain in Women.
- Published in:
- American Family Physician, 2010, v. 82, n. 2, p. 141
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- Publication type:
- Article
Diagnosis and Management of Sjögren Syndrome.
- Published in:
- American Family Physician, 2009, v. 79, n. 6, p. 465
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- Publication type:
- Article
Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Inborn Errors of Metabolism: From Preconception to Adulthood.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Echocardiographic screening of 4107 Nigerian school children for rheumatic heart disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signaling.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1416, doi. 10.1002/humu.23590
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- Publication type:
- Article
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 10, p. 1912, doi. 10.1093/hmg/ddw064
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- Publication type:
- Article
Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2411, doi. 10.1002/ajmg.a.63317
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- Publication type:
- Article
Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 271, doi. 10.1002/ajmg.a.63013
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- Publication type:
- Article
Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3121, doi. 10.1002/ajmg.a.62908
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- Publication type:
- Article
Turner syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 303, doi. 10.1002/ajmg.a.61461
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- Publication type:
- Article
Phenotype delineation of ZNF462 related syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2075, doi. 10.1002/ajmg.a.61306
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- Publication type:
- Article
Tuberous sclerosis in a patient from Nigeria.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1423, doi. 10.1002/ajmg.a.61194
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- Publication type:
- Article
Cornelia de Lange syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 150, doi. 10.1002/ajmg.a.61033
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- Publication type:
- Article
Cover Image, Volume 176A, Number 5, May 2018.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1, doi. 10.1002/ajmg.a.38714
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- Publication type:
- Article
Williams–Beuren syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1128, doi. 10.1002/ajmg.a.38672
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- Publication type:
- Article
Noonan syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2323, doi. 10.1002/ajmg.a.38362
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- Publication type:
- Article