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Sox7‐positive endothelial progenitors establish coronary arteries and govern ventricular compaction.
- Published in:
- EMBO Reports, 2023, v. 24, n. 10, p. 1, doi. 10.15252/embr.202255043
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- Publication type:
- Article
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
- Published in:
- Human Genetics, 2016, v. 135, n. 12, p. 1399, doi. 10.1007/s00439-016-1731-1
- By:
- Publication type:
- Article
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
- Published in:
- Human Genetics, 2012, v. 131, n. 12, p. 1895, doi. 10.1007/s00439-012-1216-9
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- Publication type:
- Article
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
- Published in:
- PLoS ONE, 2017, v. 12, n. 4, p. 1, doi. 10.1371/journal.pone.0175962
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- Publication type:
- Article
The frequency and efficacy of genetic testing in individuals with scimitar syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.
- Published in:
- Human Mutation, 2020, v. 41, n. 12, p. 2094, doi. 10.1002/humu.24118
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- Publication type:
- Article
Co‐occurring defect analysis: A platform for analyzing birth defect co‐occurrence in registries.
- Published in:
- Birth Defects Research, 2019, v. 111, n. 18, p. 1356, doi. 10.1002/bdr2.1549
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- Publication type:
- Article
Seventy-Five Years of Educational Reform.
- Published in:
- Black History Bulletin, 2011, v. 74, n. 2, p. 32
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- Publication type:
- Article
Publisher's Statement: New Format.
- Published in:
- 2005
- By:
- Publication type:
- Editorial
Reconstructing Democracy: Grassroots Black Politics in the Deep South after the Civil War.
- Published in:
- 2018
- By:
- Publication type:
- Book Review
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases.
- Published in:
- Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00894-y
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- Publication type:
- Article
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
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- Publication type:
- Article
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1141, doi. 10.1038/ejhg.2009.27
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- Publication type:
- Article
Underlying genetic etiologies of congenital diaphragmatic hernia.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 3, p. 373, doi. 10.1002/pd.6099
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- Publication type:
- Article
Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate.
- Published in:
- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 4, p. 417, doi. 10.1177/10556656211010060
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- Publication type:
- Article
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4339, doi. 10.1093/hmg/ddt283
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- Publication type:
- Article
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 5, p. 1026, doi. 10.1093/hmg/dds507
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- Publication type:
- Article
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4115, doi. 10.1093/hmg/dds241
- By:
- Publication type:
- Article
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 4, p. 424, doi. 10.1093/hmg/ddl475
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- Publication type:
- Article
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Mouse Model Reveals the Role of RERE in Cerebellar Foliation and the Migration and Maturation of Purkinje Cells.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0087518
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- Publication type:
- Article
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085600
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- Publication type:
- Article
Novel <i>Frem1</i>-Related Mouse Phenotypes and Evidence of Genetic Interactions with <i>Gata4</i> and <i>Slit3</i>.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058830
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- Publication type:
- Article
An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057460
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- Publication type:
- Article
The Pendred syndrome gene encodes a chloride-iodide transport protein.
- Published in:
- Nature Genetics, 1999, v. 21, n. 4, p. 440, doi. 10.1038/7783
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- Publication type:
- Article
Cognitive conceit: A review of `The Bell Curve'.
- Published in:
- 1994
- By:
- Publication type:
- Book Review
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1709, doi. 10.1093/hmg/9.11.1709
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- Publication type:
- Article
Two frequent missense mutations in Pendred syndrome.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 7, p. 1099, doi. 10.1093/hmg/7.7.1099
- By:
- Publication type:
- Article
Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 10, p. 1689, doi. 10.1093/hmg/5.10.1689
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- Publication type:
- Article
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40363-1
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- Publication type:
- Article
When Work Disappears: The World of the New Urban Poor.
- Published in:
- 1998
- By:
- Publication type:
- Book Review
RERE deficiency causes retinal and optic nerve atrophy through degeneration of retinal cells.
- Published in:
- Developmental Dynamics, 2021, v. 250, n. 10, p. 1398, doi. 10.1002/dvdy.330
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- Publication type:
- Article
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
- Published in:
- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0286-0
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- Publication type:
- Article
1p36 deletion syndrome: an update.
- Published in:
- Application of Clinical Genetics, 2015, v. 8, p. 189, doi. 10.2147/TACG.S65698
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- Publication type:
- Article
Postwar Pluralism, Brown v. Board of Education, and the Origins of Multicultural Education.
- Published in:
- Journal of American History, 2004, v. 91, n. 1, p. 69, doi. 10.2307/3659614
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- Publication type:
- Article
The 1619 Project Forum.
- Published in:
- American Historical Review, 2022, v. 127, n. 4, p. 1792, doi. 10.1093/ahr/rhac462
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- Publication type:
- Article
Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2433, doi. 10.1002/ajmg.a.63331
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- Publication type:
- Article
Patterns of co‐occurring birth defects in children with anotia and microtia.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 805, doi. 10.1002/ajmg.a.63081
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- Publication type:
- Article
Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2718, doi. 10.1002/ajmg.a.62889
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- Publication type:
- Article
A novel, de novo intronic variant in POGZ causes White–Sutton syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2198, doi. 10.1002/ajmg.a.62747
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- Publication type:
- Article
Patterns of congenital anomalies among individuals with trisomy 13 in Texas.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1787, doi. 10.1002/ajmg.a.62175
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- Publication type:
- Article
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 836, doi. 10.1002/ajmg.a.62066
- By:
- Publication type:
- Article
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2919, doi. 10.1002/ajmg.a.61878
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- Publication type:
- Article
Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2581, doi. 10.1002/ajmg.a.61830
- By:
- Publication type:
- Article
Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1960, doi. 10.1002/ajmg.a.61634
- By:
- Publication type:
- Article
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 755, doi. 10.1002/ajmg.a.61491
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- Publication type:
- Article
Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 652, doi. 10.1002/ajmg.a.61466
- By:
- Publication type:
- Article
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2459, doi. 10.1002/ajmg.a.61357
- By:
- Publication type:
- Article
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1376, doi. 10.1002/ajmg.a.61182
- By:
- Publication type:
- Article
Schaaf‐Yang syndrome overview: Report of 78 individuals.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2564, doi. 10.1002/ajmg.a.40650
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- Publication type:
- Article