Works matching DE "HUMAN abnormality genetics"
Results: 220
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
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
W01-01 - From karyotype to targeted microarray
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- 2012
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- Abstract
Cancer: the open question.
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- Oncolog-Hematolog, 2015, n. 33, p. 3
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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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- Article
CONGENITAL ANOMALIES: A MAJOR PUBLIC HEALTH ISSUE IN INDIA.
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- International Journal of Pharmaceutical, Chemical & Biological Sciences, 2013, v. 3, n. 3, p. 577
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- 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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- 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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- 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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- 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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- 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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- 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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- 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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- 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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- Article
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease.
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- 2013
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- Publication type:
- Report
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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- Article
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.
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- 2012
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- Publication type:
- Report
Expression of Fraser syndrome genes in normal and polycystic murine kidneys.
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- Pediatric Nephrology, 2012, v. 27, n. 6, p. 991, doi. 10.1007/s00467-012-2100-5
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- Article
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
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- Pediatric Nephrology, 2010, v. 25, n. 3, p. 445, doi. 10.1007/s00467-009-1372-x
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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
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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
ARID1B gene mutation in a patient with Coffin-Siris syndrome and Autism Spectrum Disorder.
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- Dusunen Adam: Journal of Psychiatry & Neurological Sciences, 2019, v. 32, n. 4, p. 355, doi. 10.14744/DAJPNS.2019.00051
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- Article
HDlive and Three-Dimensional Imaging in Prenatal Diagnosis of Sirenomelia in the First Trimester: A Case Report and Brief Review of the Literature.
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- 2015
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- Case Study
Fetal Transcerebellar Diameter to Abdominal Circumference Ratio (TCD/AC) in the Assessment of Normal Fetal Growth.
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- Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2010, v. 4, n. 4, p. 448
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- Article
Genetic Counseling for Obstetricians.
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- Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2010, v. 4, n. 4, p. 441
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- Article
Ultrasound Markers of Chromosomal Anomalies in the First Trimester.
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- Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2010, v. 4, n. 4, p. 414
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- Article
Genetics of Birth Defects.
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- Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2010, v. 4, n. 4, p. 327
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- Article
Guest Editorial.
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- Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2010, v. 4, n. 4, p. 327
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- Article
Resistance to fragility test of red blood cell in thalassemia and reduction of osmotic force at cell surface.
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- Iranian Journal of Medical Hypotheses & Ideas, 2009, v. 3, p. 1
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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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- Publication type:
- 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
Congenital cholesteatoma of mastoid region manifesting as acute mastoiditis: case report and literature review.
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- 2010
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- Publication type:
- Case Study
Malformaciones Congénitas: Aspectos Generales y Genéticos.
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- International Journal of Morphology, 2012, v. 30, n. 4, p. 1255, doi. 10.4067/S0717-95022012000400003
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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
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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- Article
Association of Polymorphic Marker G(–455)A of Gene FGB with Coronary Artery Disease.
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- Russian Journal of Genetics, 2004, v. 40, n. 10, p. 1159, doi. 10.1023/B:RUGE.0000044761.66848.80
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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
Pincer nail deformity as the main manifestation of Clouston syndrome.
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- British Journal of Dermatology, 2015, v. 173, n. 2, p. 581, doi. 10.1111/bjd.13703
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- 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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- 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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- Article
Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.
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- Journal of Genetics, 2018, v. 97, n. 2, p. 555, doi. 10.1007/s12041-018-0925-9
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- Publication type:
- Article
Balancing Needs and Autonomy: The Involvement of Pregnant Women's Partners in Decisions About cfDNA.
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- Qualitative Health Research, 2019, v. 29, n. 2, p. 211, doi. 10.1177/1049732318796833
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- 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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- Article
Engineering a broken heart.
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- Nature, 1999, v. 401, n. 6751, p. 335, doi. 10.1038/43804
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- Publication type:
- Article
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal...
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- Nature, 1994, v. 372, n. 6507, p. 635, doi. 10.1038/372635a0
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- Publication type:
- 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
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