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Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation.
- Published in:
- Molecular Medicine, 2010, v. 16, n. 9/10, p. 381, doi. 10.2119/molmed.2010-00038
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- Article
Genetic studies of myelomeningocele.
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- Child's Nervous System, 2013, v. 29, n. 9, p. 1417, doi. 10.1007/s00381-013-2197-2
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- Publication type:
- Article
Immune selective pressure and HLA class I antigen defects in malignant lesions.
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- Cancer Immunology, Immunotherapy, 2007, v. 56, n. 2, p. 227, doi. 10.1007/s00262-006-0183-1
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- Publication type:
- Article
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.
- Published in:
- 2021
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- Publication type:
- Case Study
Colony-stimulating factors in inflammation and autoimmunity.
- Published in:
- Nature Reviews Immunology, 2008, v. 8, n. 7, p. 533, doi. 10.1038/nri2356
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.
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- Annals of Laboratory Medicine, 2018, v. 38, n. 3, p. 242, doi. 10.3343/alm.2018.38.3.242
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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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- Publication type:
- Article
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the 'Renal' phenotype.
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- Pediatric Nephrology, 2016, v. 31, n. 11, p. 2025, doi. 10.1007/s00467-016-3335-3
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- Article
Copy-number variation associated with congenital anomalies of the kidney and urinary tract.
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- Pediatric Nephrology, 2015, v. 30, n. 3, p. 487, doi. 10.1007/s00467-014-2962-9
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- Publication type:
- Article
MMP-1 and -3 haplotype is associated with congenital anomalies of the kidney and urinary tract.
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- Pediatric Nephrology, 2014, v. 29, n. 5, p. 879, doi. 10.1007/s00467-013-2699-x
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- Publication type:
- Article
Megabladder mouse model of congenital obstructive nephropathy: genetic etiology and renal adaptation.
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- Pediatric Nephrology, 2014, v. 29, n. 4, p. 645, doi. 10.1007/s00467-013-2658-6
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- Publication type:
- Article
To bud or not to bud: the RET perspective in CAKUT.
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- Pediatric Nephrology, 2014, v. 29, n. 4, p. 597, doi. 10.1007/s00467-013-2606-5
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- Publication type:
- Article
MicroRNAs: potential regulators of renal development genes that contribute to CAKUT.
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- Pediatric Nephrology, 2014, v. 29, n. 4, p. 565, doi. 10.1007/s00467-013-2599-0
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- Publication type:
- Article
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
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- Pediatric Nephrology, 2014, v. 29, n. 4, p. 695, doi. 10.1007/s00467-013-2684-4
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- Publication type:
- Article
Genetics of human congenital urinary bladder disease.
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- Pediatric Nephrology, 2014, v. 29, n. 3, p. 353, doi. 10.1007/s00467-013-2472-1
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- Publication type:
- Article
The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.
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- Pediatric Nephrology, 2014, v. 29, n. 2, p. 257, doi. 10.1007/s00467-013-2625-2
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- Publication type:
- Article
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT.
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- Pediatric Nephrology, 2013, v. 28, n. 11, p. 2143, doi. 10.1007/s00467-013-2530-8
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- Publication type:
- Article
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
- Published in:
- 2013
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- Publication type:
- Report
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.
- Published in:
- 2012
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- Publication type:
- Report
Expression of Fraser syndrome genes in normal and polycystic murine kidneys.
- Published in:
- Pediatric Nephrology, 2012, v. 27, n. 6, p. 991, doi. 10.1007/s00467-012-2100-5
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- Publication type:
- Article
How to Interpret a Genome-wide Association Study.
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- JAMA: Journal of the American Medical Association, 2008, v. 299, n. 11, p. 1335, doi. 10.1001/jama.299.11.1335
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- Article
Genomic Profiles for Disease Risk.
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- 2008
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- Publication type:
- Editorial
Delivery of Genomic Medicine for Common Chronic Adult Diseases.
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- JAMA: Journal of the American Medical Association, 2008, v. 299, n. 11, p. 1320, doi. 10.1001/jama.299.11.1320
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- Publication type:
- 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
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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- Publication type:
- Article
An Assessment of Time Involved in Pre-test Case Review and Counseling for a Whole Genome Sequencing Clinical Research Program.
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- Journal of Genetic Counseling, 2014, v. 23, n. 4, p. 516, doi. 10.1007/s10897-014-9697-4
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- Publication type:
- Article
TRATAMENTUL ANODONŢIEI DE INCISIV LATERAL SUPERIOR - PREZENTAREA A DOUă CAZURI CLINICE.
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- 2012
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- Publication type:
- Case Study
CONTRIBUŢII LA STUDIUL ANOMALIEI CLASA III/1 ANGLE.
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- 2012
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- Publication type:
- Case Study
Genetic Studies of Endophenotypes From Spine CT Scans Provide Novel Insights Into the Contribution of Mechanosensory Pathways to Vertebral Fractures and Spinal Curvature.
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- 2016
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- Publication type:
- Other
Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect.
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- Journal of Bone & Mineral Research, 2010, v. 25, n. 1, p. 82, doi. 10.1359/jbmr.090707
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- Publication type:
- Article
Prevalencia y Caracterización de los Recién Nacidos con Anomalías Craneofaciales en el Instituto Materno Infantil de Bogotá.
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- Revista de Salud Pública, 2008, v. 10, n. 3, p. 423, doi. 10.1590/S0124-00642008000300007
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- Publication type:
- Article
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.
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- BMC Endocrine Disorders, 2013, v. 13, n. 1, p. 56, doi. 10.1186/1472-6823-13-56
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- Publication type:
- Article
Klippel--Trénaunay syndrome associated with great saphenous vein aplasia.
- Published in:
- 2010
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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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.
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- Science Translational Medicine, 2016, v. 8, n. 363, p. 1, doi. 10.1126/scitranslmed.aah4661
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- Publication type:
- Article
Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.
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- Journal of Autism & Developmental Disorders, 2022, v. 52, n. 11, p. 5033, doi. 10.1007/s10803-021-05365-2
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- Publication type:
- Article
Genética de la obesidad.
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- Boletín Médico del Hospital Infantil de México, 2008, v. 65, n. 6, p. 441
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- Publication type:
- Article
STUDY OF THE INCIDENCE AND FORMS OF DOWN SYNDROME IN STARA ZAGORA REGION.
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- Trakia Journal of Sciences, 2010, v. 8, n. 1, p. 52
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- Publication type:
- Article
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0332-0
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- Publication type:
- Article
HLA alleles and fissured tongue A. Kalifatidis et al. HLA alleles and fissured tongue.
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- International Journal of Immunogenetics, 2010, v. 37, n. 6, p. 509, doi. 10.1111/j.1744-313X.2010.00944.x
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- Publication type:
- Article
Molecular diversity of HLA-A*19 group of alleles in south Indian population.
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- International Journal of Immunogenetics, 2006, v. 33, n. 2, p. 69, doi. 10.1111/j.1744-313X.2006.00570.x
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- Publication type:
- Article
The synergistic effects of the IL-9 gene and environmental exposures on asthmatic Taiwanese families as determined by the transmission/disequilibrium test.
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- International Journal of Immunogenetics, 2006, v. 33, n. 2, p. 105, doi. 10.1111/j.1744-313X.2006.00578.x
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- Publication type:
- Article
Anorectal malformation associated with a mutation in the P63 gene in a family with split hand–foot malformation.
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- International Journal of Colorectal Disease, 2013, v. 28, n. 12, p. 1621, doi. 10.1007/s00384-013-1725-6
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- Publication type:
- Article