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The Natural History of Shwachman-Diamond Syndrome–Associated Liver Disease from Childhood to Adulthood

The Journal of pediatrics, 2009-12, Vol.155 (6), p.807-811.e2

2009

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Magnetic Resonance Imaging Findings of the Pancreas in Patients with Shwachman-Diamond Syndrome and Mutations in the SBDS Gene

The Journal of pediatrics, 2008-03, Vol.152 (3), p.434-436.e2

2008

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Growth after renal transplantation in infancy or early childhood

Pediatric nephrology (Berlin, West), 2002-06, Vol.17 (6), p.438-443

2002

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Cervical spine in patients with diastrophic dysplasia - radiographic findings in 122 patients

Pediatric radiology, 2002-09, Vol.32 (9), p.621-628

2002

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Manubrium sterni in patients with diastrophic dysplasia : radiological analysis of 50 patients

Pediatric radiology, 2001-08, Vol.31 (8), p.555-558

2001

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Shwachman–Diamond syndrome is associated with low-turnover osteoporosis

Bone (New York, N.Y.), 2007-12, Vol.41 (6), p.965-972

2007

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Normal growth and intravascular volume status with good metabolic control during peritoneal dialysis in infancy

Pediatric nephrology (Berlin, West), 2010-08, Vol.25 (8), p.1529-1538

2010

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Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets

Hormone research, 2008-01, Vol.69 (4), p.212-220

2008

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Outcome of Perthesʼ Disease in Unselected Patients After Femoral Varus Osteotomy and Splintage

Journal of pediatric orthopaedics. B, 1997-10, Vol.6 (4), p.229-234

1997

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Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease

Clinical rheumatology, 2007-10, Vol.26 (10), p.1773-1777

2007

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Skeletal dysplasia presenting as a neuromuscular disorder – report of three children

Neuromuscular disorders : NMD, 2007-03, Vol.17 (3), p.231-234

2007

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Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations

American journal of medical genetics. Part A, 2003-12, Vol.123A (3), p.290-295

2003

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Cervical Kyphosis in Diastrophic Dysplasia

Spine (Philadelphia, Pa. 1976), 1999-10, Vol.24 (19), p.1990-1990

1999

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Central venous thrombosis after cardiac operations in children

The Journal of thoracic and cardiovascular surgery, 1996-10, Vol.112 (4), p.883-889

1996

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Cohen syndrome: evaluation of its cardiac, endocrine and radiological features

Clinical genetics, 1999-07, Vol.56 (1), p.41-49

1999

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Excessive infantile growth and early pubertal growth spurt: Typical features in patients with aspartylglycosaminuria

The Journal of pediatrics, 1999-06, Vol.134 (6), p.761-763

1999

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Reference values for radiological evaluation of cervical vertebral body shape and spinal canal

Pediatric radiology, 2000-02, Vol.30 (3), p.190-195

2000

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Ultrasonography of the Patellofemoral Joint in Diastrophic Dysplasia

Journal of pediatric orthopaedics, 1997-07, Vol.17 (4), p.512-515

1997

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The value of MRI in early Perthes' disease : an MRI study with a 2-year follow-up

Pediatric radiology, 1997-06, Vol.27 (6), p.517-522

1997

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The spine in diastrophic dysplasia

Spine (Philadelphia, Pa. 1976), 1991-08, Vol.16 (8), p.881-887

1991

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N-terminal propeptide of type III collagen in tracheal fluid and serum in preterm infants at risk for bronchopulmonary dysplasia

Pediatric research, 1992-04, Vol.31 (4), p.340-343

1992

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Craniofrontonasal dysostosis: variable expression in a three-generation family

Clinical genetics, 1990-12, Vol.38 (6), p.441-446

1990

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N-Terminal Propetide of Type III Collagen in Tracheal Fluid and Serum in Preterm Infants at Risk for Bronchopulmonary Dysplasia

Pediatric research, 1992-04, Vol.31 (4), p.340-343

1992

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Late urologic sequelae after surgery for congenital sacrococcygeal teratoma

Pediatric surgery international, 1992-05, Vol.7 (3), p.195-198

1992

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Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations

American Journal of Medical Genetics Part A, 2003, Vol.123A (3), p.290-295

2003

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The Natural History of Shwachman-Diamond Syndrome–Associated Liver Disease from Childhood to Adulthood

Magnetic Resonance Imaging Findings of the Pancreas in Patients with Shwachman-Diamond Syndrome and Mutations in the SBDS Gene

Growth after renal transplantation in infancy or early childhood

Cervical spine in patients with diastrophic dysplasia - radiographic findings in 122 patients

Manubrium sterni in patients with diastrophic dysplasia : radiological analysis of 50 patients

Shwachman–Diamond syndrome is associated with low-turnover osteoporosis

Normal growth and intravascular volume status with good metabolic control during peritoneal dialysis in infancy

Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets

Outcome of Perthesʼ Disease in Unselected Patients After Femoral Varus Osteotomy and Splintage

Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease

Skeletal dysplasia presenting as a neuromuscular disorder – report of three children

Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations

Cervical Kyphosis in Diastrophic Dysplasia

Central venous thrombosis after cardiac operations in children

Cohen syndrome: evaluation of its cardiac, endocrine and radiological features

Excessive infantile growth and early pubertal growth spurt: Typical features in patients with aspartylglycosaminuria

Reference values for radiological evaluation of cervical vertebral body shape and spinal canal

Ultrasonography of the Patellofemoral Joint in Diastrophic Dysplasia

The value of MRI in early Perthes' disease : an MRI study with a 2-year follow-up

The spine in diastrophic dysplasia

N-terminal propeptide of type III collagen in tracheal fluid and serum in preterm infants at risk for bronchopulmonary dysplasia

Craniofrontonasal dysostosis: variable expression in a three-generation family

N-Terminal Propetide of Type III Collagen in Tracheal Fluid and Serum in Preterm Infants at Risk for Bronchopulmonary Dysplasia

Late urologic sequelae after surgery for congenital sacrococcygeal teratoma

Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations

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