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A Recql5 mutant facilitates complex CRISPR/Cas9-mediated chromosomal engineering in mouse zygotes.
- Published in:
- Genetics, 2024, v. 227, n. 2, p. 1, doi. 10.1093/genetics/iyae054
- By:
- Publication type:
- Article
Goltz Syndrome Combined with Triple X Syndrome, a Case Report.
- Published in:
- Cleft Palate Craniofacial Journal, 2024, v. 61, n. 3, p. 534, doi. 10.1177/10556656221141236
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- Publication type:
- Article
The identification of giant platelets with disorganized granules can suggest ACTB gene mutation.
- Published in:
- International Journal of Laboratory Hematology, 2023, v. 45, n. 3, p. e68, doi. 10.1111/ijlh.14011
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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.
- Published in:
- 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
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Investigational Treatments for Epidermolysis Bullosa.
- Published in:
- American Journal of Clinical Dermatology, 2021, v. 22, n. 6, p. 801, doi. 10.1007/s40257-021-00626-3
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- Publication type:
- Article
Sirolimus Therapy and Follow-up in a Patient with Severe Congenital Hyperinsulinism Following Subtotal Pancreatectomy.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 1, p. 119, doi. 10.4274/jcrpe.galenos.2020.2020.0033
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- Publication type:
- Article
Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects.
- Published in:
- Annals of Pediatric Cardiology, 2020, v. 13, n. 1, p. 38, doi. 10.4103/apc.APC_51_19
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- Publication type:
- Article
ARID1B gene mutation in a patient with Coffin-Siris syndrome and Autism Spectrum Disorder.
- Published in:
- Dusunen Adam: Journal of Psychiatry & Neurological Sciences, 2019, v. 32, n. 4, p. 355, doi. 10.14744/DAJPNS.2019.00051
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- Publication type:
- Article
Mutations in One Gene Linked to Two Birth Defects.
- Published in:
- Journal of the California Dental Association, 2019, v. 47, n. 6, p. 371
- Publication type:
- Article
Systematic review of Kabuki Syndrome's phenotype with KMT2D gene mutation.
- Published in:
- RevInter, 2019, v. 12, n. 1, p. 60, doi. 10.22280/revintervol12ed1.426
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- Publication type:
- Article
Balancing Needs and Autonomy: The Involvement of Pregnant Women's Partners in Decisions About cfDNA.
- Published in:
- Qualitative Health Research, 2019, v. 29, n. 2, p. 211, doi. 10.1177/1049732318796833
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- Publication type:
- Article
Protein Arginine Methyltransferase PRMT1 Is Essential for Palatogenesis.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Issue Information ‐ Editorial Board.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 1, p. 1, doi. 10.1111/cge.13114
- Publication type:
- Article
Genetics of patella hypoplasia/agenesis.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 1, p. 43, doi. 10.1111/cge.13209
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- Publication type:
- Article
TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 1, p. 170, doi. 10.1111/cge.13258
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- Publication type:
- Article
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design.
- Published in:
- 2018
- By:
- Publication type:
- journal article
An epigenetic association of malformations, adverse reproductive outcomes, and fetal origins hypothesis related effects.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2018, v. 35, n. 6, p. 953, doi. 10.1007/s10815-018-1197-2
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- Publication type:
- Article
Correction to: An epigenetic association of malformations, adverse reproductive outcomes, and fetal origins hypothesis related effects.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
Aniridia due to a novel microdeletion affecting PAX6 regulatory enhancers: case report and review of the literature.
- Published in:
- Journal of Genetics, 2018, v. 97, n. 2, p. 555, doi. 10.1007/s12041-018-0925-9
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- Publication type:
- Article
Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.
- Published in:
- Annals of Laboratory Medicine, 2018, v. 38, n. 3, p. 242, doi. 10.3343/alm.2018.38.3.242
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- Publication type:
- Article
Hepatomegaly in a boy with <italic>ARID1B</italic>‐related Coffin–Siris syndrome.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Chromosome 2 Microdeletion Syndrome in a Newborn with Amniotic Band Sequence.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Multiple Types of Coloboma in an Otherwise Healthy Patient: A Case Report.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment.
- Published in:
- Genetics Research International, 2017, p. 1, doi. 10.1155/2017/5836525
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- Publication type:
- Article
Gene screening facilitates diagnosis of complicated symptoms: A case report.
- Published in:
- Molecular Medicine Reports, 2017, v. 16, n. 6, p. 7915, doi. 10.3892/mmr.2017.7590
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- Publication type:
- Article
Rectal Atresia with Congenital Rectovaginal Fistula: A Rare Variant of Anorectal Malformations.
- Published in:
- Egyptian Journal of Hospital Medicine, 2017, v. 69, n. 7, p. 2795, doi. 10.12816/0042567
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- Publication type:
- Article
The Role of Noncoding Genetic Variation in Isolated Orofacial Clefts.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Dental Management of Heritable Dental Developmental Anomalies.
- Published in:
- Pediatric Dentistry, 2017, v. 39, n. 6, p. 348
- Publication type:
- Article
Copy-number variation analysis in familial nonsyndromic congenital anomalies of the kidney and urinary tract: Evidence for the causative role of a transposable element-associated genomic rearrangement.
- Published in:
- Molecular Medicine Reports, 2017, v. 15, n. 6, p. 3631, doi. 10.3892/mmr.2017.6462
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- Publication type:
- Article
Two novel ADAR1 gene mutations in two patients with dyschromatosis symmetrical hereditaria from birth.
- Published in:
- Molecular Medicine Reports, 2017, v. 15, n. 6, p. 3715, doi. 10.3892/mmr.2017.6427
- By:
- Publication type:
- Article
Correction: Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies.
- Published in:
- 2017
- By:
- Publication type:
- Correction Notice
Testimony in Support of Indiana Senate Bill 334, a Bill to Prohibit Prenatal Discrimination by Prohibiting Abortion Based on Sex Selection or Genetic Abnormality.
- Published in:
- 2017
- By:
- Publication type:
- Speech
Epispadias and the associated embryopathies: genetic and developmental basis.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 2, p. 247, doi. 10.1111/cge.12871
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- Publication type:
- Article
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
- Published in:
- Clinical Genetics, 2017, v. 91, n. 2, p. 339, doi. 10.1111/cge.12840
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- Publication type:
- Article
Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.
- Published in:
- Clinical & Experimental Dermatology, 2016, v. 41, n. 8, p. 884, doi. 10.1111/ced.12934
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- Publication type:
- Article
Genetic Studies of Endophenotypes From Spine CT Scans Provide Novel Insights Into the Contribution of Mechanosensory Pathways to Vertebral Fractures and Spinal Curvature.
- Published in:
- 2016
- By:
- Publication type:
- Other
Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.
- Published in:
- Science Translational Medicine, 2016, v. 8, n. 363, p. 1, doi. 10.1126/scitranslmed.aah4661
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- Publication type:
- Article
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the 'Renal' phenotype.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 11, p. 2025, doi. 10.1007/s00467-016-3335-3
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- Publication type:
- Article
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0332-0
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- Publication type:
- Article
TWO NOVEL HETEROZYGOUS MISSENSE VARIATIONS WITHIN THE GLI2 GENE IN TWO UNRELATED ARGENTINE PATIENTS.
- Published in:
- Medicina (Buenos Aires), 2016, v. 76, n. 4, p. 213
- By:
- Publication type:
- Article
Diagnostic use of fluorescence in situ hybridization in expert review in a phase 2 study of trabectedin monotherapy in patients with advanced, translocation-related sarcoma.
- Published in:
- Diagnostic Pathology, 2016, v. 11, p. 1, doi. 10.1186/s13000-016-0486-2
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- Publication type:
- Article
Characterization of a Complex Chromosomal Rearrangement Involving a de novo Duplication of 9p and 9q and a Deletion of 9q.
- Published in:
- Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 124, doi. 10.1159/000444138
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- Publication type:
- Article
Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.
- Published in:
- Pediatric Dermatology, 2016, v. 33, n. 1, p. e40, doi. 10.1111/pde.12727
- By:
- Publication type:
- Article
Prevalence of Congenital Malformations in Grenada.
- Published in:
- West Indian Medical Journal, 2016, v. 65, n. 1, p. 123, doi. 10.7727/wimj.2013.331
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- Publication type:
- Article
Cancer: the open question.
- Published in:
- Oncolog-Hematolog, 2015, n. 33, p. 3
- By:
- Publication type:
- Article