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Publications by Cristina Gug
CHARGE Syndrome Associated With De Novo (I1460Rfs*15) Frameshift Mutation of CHD7 Gene in a Patient With Arteria Lusoria and Horseshoe Kidney
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
Related publications
Identification of a Novel Frameshift Mutation in PITX2 Gene in a Chinese Family With Axenfeld-Rieger Syndrome
Journal of Zhejiang University: Science B
Genetics
Pharmacology
Molecular Biology
Biochemistry
Veterinary
Medicine
Toxicology
Pharmaceutics
A Familial Case of Nevoid Basal Cell Carcinoma Syndrome With a Frameshift Mutation in the PTCH1 Gene
Japanese Journal of Oral and Maxillofacial Surgery
A Case of Abdominal Aortic Aneurysm Associated With Horseshoe Kidney
Japanese Journal of Cardiovascular Surgery
Diagnostic Challenge in a Symptomatic Patient of Arteria Lusoria With Retro-Esophageal Right Subclavian Artery and Absent Brachiocephalic Trunk
Cureus
Struggle in Struggle: Surgical Treatment of Leriche Syndrome in a Horseshoe Kidney Patient
Turkish Journal of Thoracic and Cardiovascular Surgery
Respiratory Medicine
Pulmonary
Cardiovascular Medicine
Surgery
Cardiology
A Frameshift Mutation in the Gene for PAX3 in a Girl With Spina Bifida and Mild Signs of Waardenburg Syndrome.
Journal of Medical Genetics
Genetics
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him With CHARGE Syndrome
Frontiers in Genetics
Genetics
Molecular Medicine
Horseshoe Kidney With Growth Retardation: Don’t Forget Turner Syndrome
Turkish Journal of Pediatrics
Child Health
Pediatrics
Perinatology
Pure Laparoscopic Unilateral Nephrectomy for a Patient With a Polycystic Horseshoe Kidney
Canadian Urological Association Journal
Urology
