Found: 30
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Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives.
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- Journal of Genetic Counseling, 2019, v. 28, n. 5, p. 1011, doi. 10.1002/jgc4.1153
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- Article
A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 11, p. 20158, doi. 10.3390/ijms151120158
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- Article
Nail-patella syndrome: "nailing" the diagnosis in three generations.
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- Dermatology Online Journal, 2020, v. 26, n. 7, p. 1, doi. 10.5070/d3267049557
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- Article
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome.
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- Pediatrics International, 2010, v. 52, n. 5, p. 847, doi. 10.1111/j.1442-200X.2010.03216.x
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- Article
A Mother's Journey to Diagnose Her Daughter's Rare Disease.
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- Journal of Participatory Medicine, 2013, v. 5, p. 1
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- Article
Retrospective Diagnosis of Nail-patella Syndrome.
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- Indian Journal of Nephrology, 2021, v. 31, n. 5, p. 485, doi. 10.4103/ijn.IJN_172_20
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- Article
Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy.
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- Indian Journal of Nephrology, 2018, v. 28, n. 1, p. 76, doi. 10.4103/ijn.IJN_362_16
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- Article
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
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- 2017
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- Publication type:
- journal article
Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described.
- Published in:
- Nefrologia, 2013, v. 33, n. 4, p. 585, doi. 10.3265/Nefrologia.pre2013.Apr.12006
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- Article
Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.
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- Pediatric Nephrology, 2024, v. 39, n. 9, p. 2627, doi. 10.1007/s00467-024-06344-2
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- Article
Simultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes.
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- Pediatric Nephrology, 2023, v. 38, n. 6, p. 1985, doi. 10.1007/s00467-022-05817-6
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- Article
A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0801-3
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- Article
Nail-patella syndrome.
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- Pflügers Archiv: European Journal of Physiology, 2017, v. 469, n. 7/8, p. 927, doi. 10.1007/s00424-017-2013-z
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- Article
Consecutive successful pregnancies of a patient with nail-patella syndrome.
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- Case Reports in Perinatal Medicine, 2018, v. 7, n. 2, p. N.PAG, doi. 10.1515/crpm-2018-0016
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- Article
Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report.
- Published in:
- 2016
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- Publication type:
- Case Study
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
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- Clinical Kidney Journal, 2015, v. 8, n. 1, p. 113, doi. 10.1093/ckj/sfu129
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- Article
Nail-patella syndrome—a novel mutation in the LMX1B gene.
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- Clinical Kidney Journal, 2013, v. 6, n. 3, p. 305, doi. 10.1093/ckj/sft035
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- Article
Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
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- Nephrology, 2016, v. 21, n. 9, p. 765, doi. 10.1111/nep.12666
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- Article
Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.
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- Pediatric Nephrology, 2020, v. 35, n. 9, p. 1647, doi. 10.1007/s00467-020-04564-w
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- Article
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
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- Pediatric Nephrology, 2017, v. 32, n. 10, p. 1845, doi. 10.1007/s00467-016-3462-x
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- Publication type:
- Article
A case of nail-patella syndrome associated with thyrotoxicosis.
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- 2012
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- Case Study
Nail-patella syndrome: report of 11 pediatric cases.
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- Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 9, p. 1614, doi. 10.1111/jdv.13683
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- Article
Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome.
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- Vascular & Endovascular Surgery, 2020, v. 54, n. 2, p. 175, doi. 10.1177/1538574419888345
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- Publication type:
- Article
NAIL-PATELLA SYNDROME – CASE REPORT.
- Published in:
- 2011
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- Publication type:
- Case Study
Prenatal diagnosis of nail patella syndrome: A case report.
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- Indian Journal of Radiology & Imaging, 2017, v. 27, n. 3, p. 329, doi. 10.4103/ijri.IJRI_438_16
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- Publication type:
- Article
A Dominant-Negative Mutation of Mouse <i>Lmx1b</i> Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation.
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- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004359
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- Article
A rare case of nephrotic syndrome: 'Nailed' the diagnosis.
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- Journal of Postgraduate Medicine, 2014, v. 60, n. 2, p. 179, doi. 10.4103/0022-3859.132335
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- Article
MEDICAL EPONYMS LINKED TO NAILS.
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- Our Dermatology Online / Nasza Dermatologia Online, 2012, v. 3, n. 4, p. 378, doi. 10.7241/ourd.20124.91
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- Publication type:
- Article
Management of patellar problems in skeletally mature patients with nail-patella syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Median nail damage in nail-patella syndrome associated with triangular lunulae.
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- British Journal of Dermatology, 2015, v. 173, n. 6, p. 1559, doi. 10.1111/bjd.13942
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- Publication type:
- Article