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Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum - a single-center pediatric experience

Pediatric allergy and immunology, 2011-05, Vol.22 (3), p.313-319

2011

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Retropharyngeal aberrant thymus

Pediatrics (Evanston), 2001-11, Vol.108 (5), p.E94-e94

2001

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Ciliated hepatic foregut cyst causing portal hypertension in an adolescent

American journal of roentgenology (1976), 1998-03, Vol.170 (3), p.688-690

1998

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Clinical and Molecular Characterization of a Dominant Form of Congenital Hyperinsulinism Caused by a Mutation in the High-Affinity Sulfonylurea Receptor

Diabetes (New York, N.Y.), 2003-09, Vol.52 (9), p.2403-2410

2003

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Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation

The journal of clinical endocrinology and metabolism, 2004-01, Vol.89 (1), p.288-296

2004

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Pulmonary veno-occlusive disease. Another vascular disorder associated with human immunodeficiency virus infection?

Archives of pathology & laboratory medicine (1976), 1994-06, Vol.118 (6), p.664

1994

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Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum a a singleacenter pediatric experience

Pediatric allergy and immunology, 2011-05, Vol.22 (3), p.313-319

2011

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Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies

British journal of ophthalmology, 2002-04, Vol.86 (4), p.472-473

2002

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Human enteric defensins. Gene structure and developmental expression

The Journal of biological chemistry, 1996-02, Vol.271 (8), p.4038-4045

1996

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Prenatal diagnosis of a chest wall hamartoma and sternal cleft

Ultrasound in obstetrics & gynecology, 1996-06, Vol.7 (6), p.453-455

1996

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Enteric defensin expression in necrotizing enterocolitis

Pediatric research, 1998-07, Vol.44 (1), p.20-26

1998

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Intestinal interleukin‐13 in pediatric inflammatory bowel disease patients

Inflammatory bowel diseases, 2004-09, Vol.10 (5), p.593-598

2004

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Epstein-Barr virus-associated hepatic smooth muscle neoplasm in a cardiac transplant recipient

Transplantation, 1996-02, Vol.61 (3), p.515

1996

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Candida chorioamnionitis after serial therapeutic amniocenteses: a possible association

Journal of perinatology, 2000-07, Vol.20 (5), p.335-337

2000

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Bronchitis obliterans due to Mycoplasma pneumonia

Pediatric pulmonology, 1997-05, Vol.23 (5), p.375-381

1997

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Severe chemotherapy-related hepatic toxicity associated with MZ protease inhibitor phenotype

The American journal of pediatric hematology/oncology, 1990, Vol.12 (3), p.351

1990

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On lumping and splitting: A fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome

American journal of medical genetics, 1991-12, Vol.41 (4), p.548-556

1991

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Intraocular Ki-1 lymphoma in a 2-year-old boy

Journal of pediatric ophthalmology and strabismus, 1996-09, Vol.33 (5), p.268-270

1996

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Carbo-angiocardiogram and atriography in chronic pericarditis

Prensa médica argentina, 1971-09, Vol.58 (28), p.1429

1971

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Correlation Between Pathologic and Ultrasound Findings in First Trimester Spontaneous Abortions

Fetal and pediatric pathology, 1990, Vol.10 (5), p.743-756

1990

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Granulocytic sarcoma or large cell lymphoma?

Medical and pediatric oncology, 1991, Vol.19 (6), p.505-507

1991

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Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome

American journal of medical genetics, 1997-12, Vol.73 (4), p.419-424

1997

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Autophagy mediates epithelial cytoprotection in eosinophilic oesophagitis

Gut, 2017-07, Vol.66 (7), p.1197-1207

2017

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Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies

The British journal of ophthalmology, 2002, Vol.86 (4), p.472-473

2002

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On lumping an splitting : a fetus with clinical findings of the orsal-facial-digital syndrome tyupe VI, the hydrolethalus syndrome, and the Pallister-hall syndrome

American journal of medical genetics, 1991, Vol.41 (4), p.548-556

1991

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Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum - a single-center pediatric experience

Retropharyngeal aberrant thymus

Ciliated hepatic foregut cyst causing portal hypertension in an adolescent

Clinical and Molecular Characterization of a Dominant Form of Congenital Hyperinsulinism Caused by a Mutation in the High-Affinity Sulfonylurea Receptor

Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation

Pulmonary veno-occlusive disease. Another vascular disorder associated with human immunodeficiency virus infection?

Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum a a singleacenter pediatric experience

Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies

Human enteric defensins. Gene structure and developmental expression

Prenatal diagnosis of a chest wall hamartoma and sternal cleft

Enteric defensin expression in necrotizing enterocolitis

Intestinal interleukin‐13 in pediatric inflammatory bowel disease patients

Epstein-Barr virus-associated hepatic smooth muscle neoplasm in a cardiac transplant recipient

Candida chorioamnionitis after serial therapeutic amniocenteses: a possible association

Bronchitis obliterans due to Mycoplasma pneumonia

Severe chemotherapy-related hepatic toxicity associated with MZ protease inhibitor phenotype

On lumping and splitting: A fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome

Intraocular Ki-1 lymphoma in a 2-year-old boy

Carbo-angiocardiogram and atriography in chronic pericarditis

Correlation Between Pathologic and Ultrasound Findings in First Trimester Spontaneous Abortions

Granulocytic sarcoma or large cell lymphoma?

Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome

Autophagy mediates epithelial cytoprotection in eosinophilic oesophagitis

Treacher Collins syndrome with novel ophthalmic findings and visceral anomalies

On lumping an splitting : a fetus with clinical findings of the orsal-facial-digital syndrome tyupe VI, the hydrolethalus syndrome, and the Pallister-hall syndrome

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