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Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update.
- Published in:
- International Journal of Cancer, 2006, v. 118, n. 9, p. 2281, doi. 10.1002/ijc.21536
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- Publication type:
- Article
Using human sequencing to guide craniofacial research.
- Published in:
- Genesis: The Journal of Genetics & Development, 2019, v. 57, n. 1, p. N.PAG, doi. 10.1002/dvg.23259
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- Publication type:
- Article
Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?
- Published in:
- Journal of Autism & Developmental Disorders, 2021, v. 51, n. 1, p. 371, doi. 10.1007/s10803-020-04531-2
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- Publication type:
- Article
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
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- Therapeutic Advances in Musculoskeletal Disease, 2022, p. 1, doi. 10.1177/1759720X221084848
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- Publication type:
- Article
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
- Published in:
- 2016
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- Publication type:
- Case Study
Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 13, p. 1326, doi. 10.1002/pd.4475
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- Publication type:
- Article
Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 19, p. 1733, doi. 10.1002/bdr2.1801
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- Publication type:
- Article
Progressive Occlusive Cerebrovascular Disease in a Patient with Neurofibromatosis Type 1.
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- Clinical Pediatrics, 1992, v. 31, n. 5, p. 313, doi. 10.1177/000992289203100511
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- Publication type:
- Article
Yogurt.
- Published in:
- Clinical Pediatrics, 1985, v. 24, n. 8, p. 452, doi. 10.1177/000992288502400807
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- Publication type:
- Article
Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.
- Published in:
- Breast Cancer Research & Treatment, 2014, v. 146, n. 2, p. 421, doi. 10.1007/s10549-014-3026-3
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- Publication type:
- Article
Intestinal Malrotation in a Patient With Pfeiffer Syndrome Type 2.
- Published in:
- 2010
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- Publication type:
- Case Study
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 87, n. 6, p. 412, doi. 10.1159/000464143
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- Publication type:
- Article
Systemic and ocular manifestations of a patient with mosaic ARID1A‐associated Coffin‐Siris syndrome and review of select mosaic conditions with ophthalmic manifestations.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 644, doi. 10.1002/ajmg.c.31839
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- Publication type:
- Article
Neonates with Tongue-Based Airway Obstruction: A Systematic Review.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2012, v. 146, n. 1, p. 8, doi. 10.1177/0194599811421598
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- Publication type:
- Article
PRENATAL DIAGNOSIS OF RING CHROMOSOME 6 IN A FETUS WITH HYDROCEPHALUS.
- Published in:
- Prenatal Diagnosis, 1996, v. 16, n. 9, p. 857, doi. 10.1002/(SICI)1097-0223(199609)16:9<857::AID-PD950>3.0.CO;2-J
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- Publication type:
- Article
Cystic hygroma and congenital diaphragmatic hernia: early prenatal sonographic evaluation of Fryns' syndrome.
- Published in:
- 1992
- By:
- Publication type:
- journal article
TECHNOLOGY-BASED vs. Traditional Instruction.
- Published in:
- Nursing Education Perspectives (National League for Nursing), 2003, v. 24, n. 2, p. 70
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- Publication type:
- Article
Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Parental Perspectives of Children Born With Cleft Lip and/or Palate: A Qualitative Assessment of Suggestions for Healthcare Improvements and Interventions.
- Published in:
- Cleft Palate Craniofacial Journal, 2010, v. 47, n. 2, p. 143, doi. 10.1597/08-259_1
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- Publication type:
- Article
Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
- Published in:
- Cancer Causes & Control, 2005, v. 16, n. 6, p. 667, doi. 10.1007/s10552-005-1724-1
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- Publication type:
- Article
Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation.
- Published in:
- Breast Cancer Research & Treatment, 2013, v. 142, n. 1, p. 177, doi. 10.1007/s10549-013-2729-1
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- Publication type:
- Article
Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
- Published in:
- Breast Cancer Research & Treatment, 2007, v. 105, n. 2, p. 221
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- Publication type:
- Article
Identification of Large NF1 Duplications Reciprocal to NAHR-Mediated Type-1 NF1 Deletions.
- Published in:
- Human Mutation, 2014, v. 35, n. 12, p. 1469, doi. 10.1002/humu.22692
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- Publication type:
- Article
Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence.
- Published in:
- JAMA Pediatrics, 2016, v. 170, n. 9, p. 894, doi. 10.1001/jamapediatrics.2016.0796
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- Publication type:
- Article
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3399, doi. 10.1093/hmg/ddv088
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- Publication type:
- Article
Family History Collection Practices: National Survey of Pediatric Primary Care Providers.
- Published in:
- Clinical Pediatrics, 2018, v. 57, n. 5, p. 537, doi. 10.1177/0009922817733693
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- Publication type:
- Article
A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 6, p. 401, doi. 10.1111/j.1399-0004.1991.tb03050.x
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- Publication type:
- Article
Robin sequence without cleft palate: Genetic diagnoses and management implications.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 160, doi. 10.1002/ajmg.a.62515
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- Publication type:
- Article
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 413, doi. 10.1002/ajmg.a.61977
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- Publication type:
- Article
A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 487, doi. 10.1002/ajmg.a.37441
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- Publication type:
- Article
Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 87, doi. 10.1002/ajmg.a.36206
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- Publication type:
- Article
Characterization of tracheobronchomalacia in infants with hypophosphatasia.
- Published in:
- 2020
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- Publication type:
- journal article
Decision Making for Children with Obstructive Sleep Apnea without Tonsillar Hypertrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Cost Analysis of Mandibular Distraction versus Tracheostomy in Neonates with Pierre Robin Sequence.
- Published in:
- Otolaryngology-Head & Neck Surgery, 2014, v. 151, n. 5, p. 811, doi. 10.1177/0194599814542759
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- Publication type:
- Article
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.969
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- Publication type:
- Article
Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 4, p. 299, doi. 10.1111/j.1399-0004.1988.tb03452.x
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- Publication type:
- Article
Airway obstruction in the pierre robin sequence.
- Published in:
- Laryngoscope, 1995, v. 105, n. 2, p. 111, doi. 10.1288/00005537-199502000-00001
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- Publication type:
- Article