Works matching DE "HUMAN chromosome abnormality diagnosis"
Results: 2079
Genetic Testing and the Early Hearing Detection and Intervention Process.
- Published in:
- Volta Review, 2003, v. 103, n. 4, p. 371
- By:
- Publication type:
- Article
A VEIL OF GENETIC IGNORANCE? PROTECTING GENETIC PRIVACY TO ENSURE EQUALITY.
- Published in:
- Villanova Law Review, 2006, v. 51, n. 4, p. 827
- By:
- Publication type:
- Article
Silicon Nanowire Biochip to Boost Genetic Testing.
- Published in:
- Innovation, 2007, v. 7, n. 3, p. 4
- Publication type:
- Article
PSYCHOSOCIAL IMPACT OF TESTING (BY LINKAGE) FOR THE BRCA1 BREAST CANCER GENE: AN INVESTIGATION OF TWO FAMILIES IN THE RESEARCH SETTING.
- Published in:
- Psycho-Oncology, 1996, v. 5, n. 3, p. 233, doi. 10.1002/(SICI)1099-1611(199609)5:3<233::AID-PON238>3.0.CO;2-T
- By:
- Publication type:
- Article
ACCEPTANCE OF INVITATIONS FOR p53 AND BRCA1 PREDISPOSITION TESTING: FACTORS INFLUENCING POTENTIAL UTILIZATION OF CANCER GENETIC TESTING.
- Published in:
- Psycho-Oncology, 1996, v. 5, n. 3, p. 241, doi. 10.1002/(SICI)1099-1611(199609)5:3<241::AID-PON235>3.0.CO;2-6
- By:
- Publication type:
- Article
A Case of Restrictive Dermopathy with Novel ZMPSTE24 Gene Mutation.
- Published in:
- Pediatric & Developmental Pathology, 2012, v. 15, n. 5, p. 393, doi. 10.2350/11-07-1059-CR.1
- By:
- Publication type:
- Article
Infantile Osteopetrosis and Juvenile Xanthogranuloma Presenting Together in a Newborn: A Case Report and Literature Review.
- Published in:
- Pediatric & Developmental Pathology, 2011, v. 14, n. 4, p. 307, doi. 10.2350/10-09-0909-CR.1
- By:
- Publication type:
- Article
Smith's Recognizable Patterns of Human Malformation (6th edition)/Atlas of Genetic Diagnosis and Counseling.
- Published in:
- 2006
- By:
- Publication type:
- Book Review
Histologic Analysis of Gonadal Tissue in Patients with Ullrich-Turner Syndrome and Derivative Y Chromosomes.
- Published in:
- Pediatric & Developmental Pathology, 2005, v. 8, n. 2, p. 197, doi. 10.1007/s10024-004-1013-0
- By:
- Publication type:
- Article
Gastrointestinal Polyposis in Childhood: Clinicopathologic and Genetic Features.
- Published in:
- Pediatric & Developmental Pathology, 2003, v. 6, n. 5, p. 371, doi. 10.1007/s10024-002-0701-x
- By:
- Publication type:
- Article
Screening for Single Gene Genetic Disease.
- Published in:
- Gynecologic & Obstetric Investigation, 2005, v. 60, n. 1, p. 19, doi. 10.1159/000083481
- By:
- Publication type:
- Article
Beware the solitary maxillary median central incisor.
- Published in:
- Journal of Orthodontics, 2008, v. 35, n. 1, p. 16, doi. 10.1179/146531207225022365
- By:
- Publication type:
- Article
GENETIC SCREENING AND REPRODUCTIVE CHOICE: IS MAKING A CHILD TO SAVE ANOTHER UNETHICAL?
- Published in:
- Medicine & Law (World Association for Medical Law), 2005, v. 24, n. 4, p. 775
- By:
- Publication type:
- Article
INFORMED CONSENT WHEN TAKING GENETIC DECISIONS.
- Published in:
- Medicine & Law (World Association for Medical Law), 2004, v. 23, n. 2, p. 337
- By:
- Publication type:
- Article
The Editor's Page.
- Published in:
- Medicine & Law (World Association for Medical Law), 2003, v. 22, n. 3, p. 357
- By:
- Publication type:
- Article
ETHICAL CONSIDERATIONS OF APPLICATIONS OF PREIMPLANTATION GENETIC DIAGNOSIS IN THE UNITED STATES.
- Published in:
- Medicine & Law (World Association for Medical Law), 2003, v. 22, n. 3, p. 489
- By:
- Publication type:
- Article
SOME LEGAL ASPECTS OF GENETIC SCREENING.
- Published in:
- Medicine & Law (World Association for Medical Law), 2003, v. 22, n. 3, p. 401
- By:
- Publication type:
- Article
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.
- Published in:
- Human Genetics, 2021, v. 140, n. 1, p. 113, doi. 10.1007/s00439-020-02148-0
- By:
- Publication type:
- Article
Genetics of the congenital absence of the vas deferens.
- Published in:
- Human Genetics, 2021, v. 140, n. 1, p. 59, doi. 10.1007/s00439-020-02122-w
- By:
- Publication type:
- Article
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1429, doi. 10.1007/s00439-020-02187-7
- By:
- Publication type:
- Article
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
- Published in:
- Human Genetics, 2019, v. 138, n. 8/9, p. 799, doi. 10.1007/s00439-019-01977-y
- By:
- Publication type:
- Article
Phenotype–genotype correlations and emerging pathways in ocular anterior segment dysgenesis.
- Published in:
- Human Genetics, 2019, v. 138, n. 8/9, p. 899, doi. 10.1007/s00439-018-1935-7
- By:
- Publication type:
- Article
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
- Published in:
- Human Genetics, 2018, v. 137, n. 3, p. 265, doi. 10.1007/s00439-018-1879-y
- By:
- Publication type:
- Article
Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.
- Published in:
- PeerJ, 2019, p. 1, doi. 10.7717/peerj.6661
- By:
- Publication type:
- Article
Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome.
- Published in:
- PeerJ, 2018, p. 1, doi. 10.7717/peerj.5927
- By:
- Publication type:
- Article
Genetic Tests and Employment in Museums.
- Published in:
- Museum Management & Curatorship, 1998, v. 17, n. 3, p. 219, doi. 10.1080/09647779800101703
- Publication type:
- Article
StatBite Genetic Tests Sold Directly to Consumers for Medical Conditions.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2010, v. 102, n. 21, p. 1612, doi. 10.1093/jnci/djq448
- Publication type:
- Article
46. Rothmund-Thomson Syndrome.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2008, n. 38, p. 81
- Publication type:
- Article
Prostate Cancer Test Combines Gene Variants To Predict Risk.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2008, v. 100, n. 6, p. 383
- By:
- Publication type:
- Article
Personal Genetic Tests Facing Scrutiny.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2008, v. 100, n. 6, p. 382, doi. 10.1093/jnci/djn071
- By:
- Publication type:
- Article
Very Early Detection? British Group Gauges Public Interest in Embryo Testing for Cancer.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2006, v. 98, n. 3, p. 156, doi. 10.1093/jnci/djj058
- By:
- Publication type:
- Article
In Brief.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2005, v. 97, n. 19, p. 1406, doi. 10.1093/jnci/dji357
- By:
- Publication type:
- Article
Cost-effectiveness of human papillomavirus DNA testing in the United Kingdom, The Netherlands, France, and Italy.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Revised Bethesda Guidelines Identify Patients at Risk for HNPCC.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2005, v. 97, n. 10, p. 712
- By:
- Publication type:
- Article
As Genetic Tests Move Into the Mainstream, Challenges Await for Doctors and Patients.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2005, v. 97, n. 5, p. 334, doi. 10.1093/jnci/97.5.334
- By:
- Publication type:
- Article
In Brief.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2004, v. 96, n. 9, p. 653, doi. 10.1093/jnci/96.9.653
- By:
- Publication type:
- Article
Familial Risks for Cancer as the Basis for Evidence-Based Clinical Referral and Counseling.
- Published in:
- Oncologist, 2008, v. 13, n. 3, p. 239, doi. 10.1634/theoncologist.2007-0242
- By:
- Publication type:
- Article
Professional Challenges in Cancer Genetic Testing: Who Is the Patient?
- Published in:
- Oncologist, 2008, v. 13, n. 3, p. 232, doi. 10.1634/theoncologist.2007-0203
- By:
- Publication type:
- Article
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The 'eye of the tiger' sign in pure akinesia with gait freezing.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 4, p. 703, doi. 10.1007/s10072-011-0589-1
- By:
- Publication type:
- Article
Memorable Messages about Genes and Health: Implications for Direct-to-Consumer Marketing of Genetic Tests and Therapies.
- Published in:
- Health Marketing Quarterly, 2008, v. 25, n. 1/2, p. 8, doi. 10.1080/07359680802126061
- By:
- Publication type:
- Article
De Novo NEMO Gene Deletion (Δ4-10) -- A Cause of Incontinentia Pigmenti in a Female Infant: A Case Report.
- Published in:
- Collegium Antropologicum, 2008, v. 32, n. 4, p. 1259
- By:
- Publication type:
- Article
and in other news&.
- Published in:
- 2007
- Publication type:
- Editorial
Preimplantation genetic diagnosis of severe inherited skin diseases.
- Published in:
- Experimental Dermatology, 1998, v. 7, n. 2/3, p. 65, doi. 10.1111/j.1600-0625.1998.tb00305.x
- By:
- Publication type:
- Article
Sarcomeric Gene Variants and Their Role with Left Ventricular Dysfunction in Background of Coronary Artery Disease.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 3, p. 442, doi. 10.3390/biom10030442
- By:
- Publication type:
- Article
VP64.18: Evaluation of embryo gender sensitivity diagnosis and chromosome‐Y using fetal DNA in culture medium.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 361, doi. 10.1002/uog.23446
- By:
- Publication type:
- Article
VP33.06: Non‐immune hydrops fetalis and diagnostic yield with prenatal‐exome sequencing: a case series.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 195, doi. 10.1002/uog.22830
- By:
- Publication type:
- Article
VP33.03: The diagnostic yield of prenatal genomic testing in congenital heart defects: a cohort study.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 194, doi. 10.1002/uog.22827
- By:
- Publication type:
- Article