Works matching DE "HUMAN abnormality genetics"
Results: 218
Nasopharyngeal Angiofibroma: Karyotyping Profile and Florescent In-Situ Hybridization Analysis with C-Myelocytomatosis, Tumor Suppressor p53 and CEP-X/Y Probes.
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- Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 1, p. 284, doi. 10.1007/s12070-024-05171-z
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- Article
Sanjad Sakati syndrome: a case series from Jordan.
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- Eastern Mediterranean Health Journal, 2012, v. 18, n. 5, p. 527, doi. 10.26719/2012.18.5.527
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- Article
Heparan sulfate Ndst1 gene function variably regulates multiple signaling pathways during mouse development.
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- Developmental Dynamics, 2007, v. 236, n. 2, p. 556, doi. 10.1002/dvdy.21038
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- Article
Esophageal Squamous Cell Papillomatosis Arising in Focal Dermal Hypoplasia in a 3-Year-Old Girl.
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- 2018
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- Publication type:
- journal article
WHO SINNED? PARENTS' KNOWLEDGE OF THE CAUSES OF DISABILITY IN TANZANI.
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- International Journal of Special Education, 2012, v. 27, n. 2, p. 216
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- Article
Arab gene geography: From population diversities to personalized medical genomics.
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- Global Cardiology Science & Practice, 2014, v. 2014, n. 4, p. 238, doi. 10.5339/gcsp.2014.54
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- Article
Focal nodular hyperplasia-like lesion of the liver in a child previously treated for nephroblastoma.
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- Pathology International, 2008, v. 58, n. 9, p. 606, doi. 10.1111/j.1440-1827.2008.02277.x
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- Article
Lack of pancreatic body and tail in HNF1B mutation carriers.
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- Diabetic Medicine, 2008, v. 25, n. 7, p. 782, doi. 10.1111/j.1464-5491.2008.02460.x
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- Article
Acquired, non-amyloid related factor X deficiency: review of the literature.
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- Haemophilia, 2012, v. 18, n. 5, p. 655, doi. 10.1111/j.1365-2516.2012.02773.x
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- Article
Systematic review of Kabuki Syndrome's phenotype with KMT2D gene mutation.
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- RevInter, 2019, v. 12, n. 1, p. 60, doi. 10.22280/revintervol12ed1.426
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- Article
NEURAL TUBE AND CRANIOFACIAL DEFECTS WITH SPECIAL EMPHASIS ON FOLATE PATHWAY GENES.
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- Critical Reviews in Oral Biology & Medicine, 1998, v. 9, n. 1, p. 38, doi. 10.1177/10454411980090010201
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- Article
The identification of giant platelets with disorganized granules can suggest ACTB gene mutation.
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- International Journal of Laboratory Hematology, 2023, v. 45, n. 3, p. e68, doi. 10.1111/ijlh.14011
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- Article
ABNORMAL APPEARANCES : INSPECTION, DISPLAY AND THE CLINIC.
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- Medicina nei Secoli: Arte e Scienza, 2014, v. 26, n. 1, p. 333
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- Article
Protein Arginine Methyltransferase PRMT1 Is Essential for Palatogenesis.
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- 2018
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- Publication type:
- journal article
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.
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- 2017
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- journal article
Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.
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- 2017
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- journal article
Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.
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- 2017
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- journal article
The Role of Noncoding Genetic Variation in Isolated Orofacial Clefts.
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- 2017
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- journal article
Dental Management of Heritable Dental Developmental Anomalies.
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- Pediatric Dentistry, 2017, v. 39, n. 6, p. 348
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- Article
Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation.
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- Molecular Medicine, 2010, v. 16, n. 9/10, p. 381, doi. 10.2119/molmed.2010-00038
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- Article
TGF-β–FOXO signalling maintains leukaemia-initiating cells in chronic myeloid leukaemia.
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- Nature, 2010, v. 463, n. 7281, p. 676, doi. 10.1038/nature08734
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- Article
Genetics: Autistic details.
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- Nature, 2008, v. 454, n. 7202, p. 256, doi. 10.1038/454256d
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- Article
Colony-stimulating factors in inflammation and autoimmunity.
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- Nature Reviews Immunology, 2008, v. 8, n. 7, p. 533, doi. 10.1038/nri2356
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- Article
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
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- Human Genetics, 2014, v. 133, n. 1, p. 11, doi. 10.1007/s00439-013-1353-9
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- Article
Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.
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- Human Genetics, 2004, v. 115, n. 1, p. 8, doi. 10.1007/s00439-004-1108-8
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- Article
Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.
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- Human Genetics, 2004, v. 115, n. 1, p. 1
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- Article
SNTG1, the gene encoding γ1-syntrophin: a candidate gene for idiopathic scoliosis.
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- Human Genetics, 2004, v. 115, n. 1, p. 81, doi. 10.1007/s00439-004-1121-y
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- Article
Testimony in Support of Indiana Senate Bill 334, a Bill to Prohibit Prenatal Discrimination by Prohibiting Abortion Based on Sex Selection or Genetic Abnormality.
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- 2017
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- Publication type:
- Speech
Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.
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- Clinical & Experimental Dermatology, 2016, v. 41, n. 8, p. 884, doi. 10.1111/ced.12934
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- Article
No risk of genetic disease in childhood cancer survivors' offspring found.
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- CA: A Cancer Journal for Clinicians, 2012, v. 62, n. 3, p. 145, doi. 10.3322/caac.21137
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- Article
Olfactory Agenesis in Kallmann Syndrome (KS).
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- Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 4, p. 1, doi. 10.7860/JCDR/2015/11761.5777
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- Article
Cystic Fibrosis Gene Testing a Challenge: Experts Say Widespread Use is Creating Unnecessary Risks.
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- JAMA: Journal of the American Medical Association, 2003, v. 289, n. 22, p. 2923, doi. 10.1001/jama.289.22.2923
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- Article
Prescription for Prophecy: Confronting the Ambiguity of Susceptibility Testing.
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- JAMA: Journal of the American Medical Association, 1998, v. 280, n. 17, p. 1535, doi. 10.1001/jama.280.17.1535-JMS1104-4-1
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- Article
The science bit.
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- Nursing Standard, 2004, v. 18, n. 23, p. 23, doi. 10.7748/ns.18.23.23.s33
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- Article
Multiple Types of Coloboma in an Otherwise Healthy Patient: A Case Report.
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- 2018
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- Case Study
Rectal Atresia with Congenital Rectovaginal Fistula: A Rare Variant of Anorectal Malformations.
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- Egyptian Journal of Hospital Medicine, 2017, v. 69, n. 7, p. 2795, doi. 10.12816/0042567
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- Article
Autosomal-dominant Ankyloglossia and Tooth Number Anomalies.
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- Journal of Dental Research, 2010, v. 89, n. 2, p. 128, doi. 10.1177/0022034509356401
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- Publication type:
- Article
Unraveling Human Cleft Lip and Palate Research.
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- Journal of Dental Research, 2008, v. 87, n. 2, p. 119, doi. 10.1177/154405910808700202
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- Article
A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum.
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- Cytogenetic & Genome Research, 2010, v. 132, n. 3, p. 135, doi. 10.1159/000321577
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- Article
Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male.
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- Cytogenetic & Genome Research, 2007, v. 118, n. 1, p. 38, doi. 10.1159/000106439
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- Article
Síndrome dismórfico con anomalías congénitas múltiples: Clasificación actual.
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- Revista Mexicana de Pediatria, 2009, v. 76, n. 3, p. 132
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- Article
Large-scale discovery of novel genetic causes of developmental disorders.
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- Nature, 2015, v. 519, n. 7542, p. 223, doi. 10.1038/nature14135
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- Article
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.
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- 2021
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- Publication type:
- Case Study
Human genetics: An accomplice, by (Di)George!
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- Nature Reviews Genetics, 2003, v. 4, n. 3, p. 167, doi. 10.1038/nrg1028
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- Article
A Recql5 mutant facilitates complex CRISPR/Cas9-mediated chromosomal engineering in mouse zygotes.
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- Genetics, 2024, v. 227, n. 2, p. 1, doi. 10.1093/genetics/iyae054
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- Publication type:
- Article
Short-term neurodevelopmental outcome of babies operated on for low-risk esophageal atresia: a pilot study.
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- Diseases of the Esophagus, 2014, v. 27, n. 4, p. 330, doi. 10.1111/dote.12114
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- Article
Recent advance in our understanding of the molecular nature of chromosomal abnormalities.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 253, doi. 10.1038/jhg.2009.35
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- Article
Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.
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- Journal of Human Genetics, 2003, v. 48, n. 7, p. 346, doi. 10.1007/s10038-003-0036-0
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- Article
The effects of parental smoking and heredity on the etiology of childhood strabismus: A twin study.
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- Human & Experimental Toxicology, 1999, v. 18, n. 4, p. 304, doi. 10.1191/096032799678840101
- Publication type:
- Article
Using offspring-parent triads to study complex traits: A tutorial based on orofacial clefts.
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- Journal of Management & Public Policy, 2012, p. 251
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- Publication type:
- Article