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Focal nodular hyperplasia-like lesion of the liver in a child previously treated for nephroblastoma.
- Published in:
- Pathology International, 2008, v. 58, n. 9, p. 606, doi. 10.1111/j.1440-1827.2008.02277.x
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- Publication type:
- Article
Investigational Treatments for Epidermolysis Bullosa.
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- 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
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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- Publication type:
- Article
Prescription for Prophecy: Confronting the Ambiguity of Susceptibility Testing.
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- JAMA: Journal of the American Medical Association, 1998, v. 280, n. 17, p. 1535, doi. 10.1001/jama.280.17.1535-JMS1104-4-1
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- Publication type:
- Article
Sirolimus Therapy and Follow-up in a Patient with Severe Congenital Hyperinsulinism Following Subtotal Pancreatectomy.
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- 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
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
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- Clinical Genetics, 2017, v. 91, n. 2, p. 339, doi. 10.1111/cge.12840
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- Publication type:
- Article
Epispadias and the associated embryopathies: genetic and developmental basis.
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- Clinical Genetics, 2017, v. 91, n. 2, p. 247, doi. 10.1111/cge.12871
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- Publication type:
- Article
Cornelia de Lange syndrome.
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- Clinical Genetics, 2015, v. 88, n. 1, p. 1, doi. 10.1111/cge.12499
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- Publication type:
- Article
Views of primary care providers regarding the return of genome sequencing incidental findings.
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- Clinical Genetics, 2014, v. 86, n. 5, p. 461, doi. 10.1111/cge.12390
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- Publication type:
- Article
Use of genetic technologies to compare medicines.
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- Clinical Genetics, 2014, v. 86, n. 5, p. 441, doi. 10.1111/cge.12462
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- Publication type:
- Article
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.
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- Clinical Genetics, 2013, v. 84, n. 5, p. 429, doi. 10.1111/cge.12061
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- Publication type:
- Article
PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies.
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- Clinical Genetics, 2011, v. 80, n. 6, p. 581, doi. 10.1111/j.1399-0004.2010.01588.x
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- Publication type:
- Article
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.
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- Clinical Genetics, 2011, v. 80, n. 5, p. 466, doi. 10.1111/j.1399-0004.2010.01554.x
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- Publication type:
- Article
Insight into the genetic cause underlying Kabuki syndrome.
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- Clinical Genetics, 2011, v. 79, n. 2, p. 133, doi. 10.1111/j.1399-0004.2010.01586.x
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- Publication type:
- Article
Segmental maternal UPD(7q) in Silver–Russell syndrome.
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- 2008
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- Publication type:
- Letter
A novel mutation in the FOXC1 gene in a family with Axenfeld–Rieger syndrome and Peters’ anomaly.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 476, doi. 10.1111/j.1399-0004.2008.01025.x
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- Publication type:
- Article
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
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- Clinical Genetics, 2008, v. 74, n. 5, p. 469, doi. 10.1111/j.1399-0004.2008.01094.x
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- Publication type:
- Article
Short Report A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome.
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- Clinical Genetics, 2004, v. 65, n. 5, p. 400, doi. 10.1111/j.0009-9163.2004.0212.x
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- Publication type:
- Article
Short Report Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
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- Clinical Genetics, 2004, v. 65, n. 5, p. 384, doi. 10.1111/j.0009-9163.2004.00235.x
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- Publication type:
- Article
Texas physicians' perceptions of genomic medicine as an innovation.
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- Clinical Genetics, 2004, v. 65, n. 5, p. 368, doi. 10.1111/j.0009-9163.2004.00253.x
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- Publication type:
- Article
Vietnamese sisters with Grebe syndrome on a TV program in Japan.
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- Clinical Genetics, 2001, v. 60, n. 6, p. 474, doi. 10.1034/j.1399-0004.2001.600613.x
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- Publication type:
- Article
A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.
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- Clinical Genetics, 2000, v. 58, n. 6, p. 483, doi. 10.1034/j.1399-0004.2000.580610.x
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- Publication type:
- Article
Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene.
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- Clinical Genetics, 1999, v. 56, n. 3, p. 216, doi. 10.1034/j.1399-0004.1999.560306.x
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- Publication type:
- Article
Transcription factors in dysmorphology.
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- Clinical Genetics, 1999, v. 55, n. 3, p. 137, doi. 10.1034/j.1399-0004.1999.550301.x
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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
The identification of giant platelets with disorganized granules can suggest ACTB gene mutation.
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- International Journal of Laboratory Hematology, 2023, v. 45, n. 3, p. e68, doi. 10.1111/ijlh.14011
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- Publication type:
- Article
Protein Arginine Methyltransferase PRMT1 Is Essential for Palatogenesis.
- Published in:
- 2018
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- Publication type:
- journal article
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.
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- 2017
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- Publication type:
- journal article
Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.
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- 2017
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- Publication type:
- journal article
Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.
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- 2017
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- Publication type:
- journal article
The Role of Noncoding Genetic Variation in Isolated Orofacial Clefts.
- Published in:
- 2017
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- Publication type:
- journal 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
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
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
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
Klippel--Trénaunay syndrome associated with great saphenous vein aplasia.
- Published in:
- 2010
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- Publication type:
- Case Study
Update on neuroimaging phenotypes of mid-hindbrain malformations.
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- Neuroradiology, 2015, v. 57, n. 2, p. 113, doi. 10.1007/s00234-014-1431-2
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- Publication type:
- Article
Study Designs to Enhance Identification of Genetic Factors in Healthy Aging.
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- Nutrition Reviews, 2007, v. 65, p. S228, doi. 10.1301/nr.2007.dec.S228-S233
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- Publication type:
- Article
Mutations in One Gene Linked to Two Birth Defects.
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- Journal of the California Dental Association, 2019, v. 47, n. 6, p. 371
- Publication type:
- Article
W01-01 - From karyotype to targeted microarray
- Published in:
- 2012
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- Publication type:
- Abstract
Hepatomegaly in a boy with <italic>ARID1B</italic>‐related Coffin–Siris syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Trisomy 8 mosaicism with pyloric atresia and situs ambiguous.
- Published in:
- Pediatrics International, 2014, v. 56, n. 6, p. 938, doi. 10.1111/ped.12519
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- Publication type:
- Article
Hand-foot-genital syndrome with a 7p15 deletion: Clinically recognizable syndrome.
- Published in:
- Pediatrics International, 2012, v. 54, n. 3, p. e22, doi. 10.1111/j.1442-200X.2011.03550.x
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- Publication type:
- Article
Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients.
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- Pediatrics International, 2007, v. 49, n. 1, p. 11, doi. 10.1111/j.1442-200X.2007.02302.x
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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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- 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
Genetic Influences on Hallux Valgus in Koreans: The Healthy Twin Study.
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- Twin Research & Human Genetics, 2014, v. 17, n. 2, p. 121, doi. 10.1017/thg.2014.10
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- 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
Olfactory Agenesis in Kallmann Syndrome (KS).
- Published in:
- Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 4, p. 1, doi. 10.7860/JCDR/2015/11761.5777
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- Publication type:
- Article