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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Journal of medical genetics, 2010-01, Vol.47 (1), p.8-21

2010

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Hemolytic uremic syndrome associated with Denys-Drash syndrome

Pediatric nephrology (Berlin, West), 2000-10, Vol.14 (12), p.1092-1097

2000

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Sternal mass in an 11-year-old boy

Clinical orthopaedics and related research, 1998-08, Vol.353 (353), p.256-262

1998

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Helicobacter pylori and Meckel's Diverticula

Journal of pediatric gastroenterology and nutrition, 2001-02, Vol.32 (2), p.150-155

2001

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Leg pain and swelling in a 141/2-year-old boy

Clinical orthopaedics and related research, 1998 (352), p.250-257

1998

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Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: Molecular and pathological analyses

American journal of medical genetics, 2000-03, Vol.91 (3), p.222-226

2000

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Plastic bronchitis in children: A case series and review of the medical literature

Pediatric pulmonology, 2002-12, Vol.34 (6), p.482-487

2002

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Liver Histology and Alanine Aminotransferase Levels in Children and Adults with Chronic Hepatitis C Infection

Journal of pediatric gastroenterology and nutrition, 2005-11, Vol.41 (5), p.634-638

2005

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Desmoplastic nested spindle cell tumor of liver: Report of four cases of a proposed new entity

The American journal of surgical pathology, 2005, Vol.29 (1), p.1-9

2005

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Inflammatory pulmonary nodules in Kawasaki disease

Pediatric pulmonology, 2003-08, Vol.36 (2), p.102-106

2003

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Congenital panfollicular nevus: report of a new entity

Journal of cutaneous pathology, 2005-01, Vol.32 (1), p.59-62

2005

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A Rare Cause of Necrotizing and Crescentic Glomerulonephritis in a Young Adult Male

American journal of kidney diseases, 2005-05, Vol.45 (5), p.956-960

2005

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Nephrotic syndrome in the newborn

American journal of kidney diseases, 2003-12, Vol.42 (6), p.1318-1323

2003

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A 14-year-old girl with recumbent proteinuria

Pediatric nephrology (Berlin, West), 2002-05, Vol.17 (5), p.379-381

2002

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Inguinal swelling in a 5-year-old girl

Clinical orthopaedics and related research, 1998 (350), p.273-275

1998

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Lymphocytopenia in children with lymphatic malformation

Archives of otolaryngology--head & neck surgery, 2006-01, Vol.132 (1), p.93

2006

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Alterations in the endocannabinoid system in the rat valproic acid model of autism

Behavioural brain research, 2013-07, Vol.249, p.124-132

2013

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Serine is a natural ligand and allosteric activator of pyruvate kinase M2

Nature (London), 2012-11, Vol.491 (7424), p.458-462

2012

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Differential response of delayed healing and persistent inflammation at sites of overlapping sirolimus- or paclitaxel-eluting stents

Circulation (New York, N.Y.), 2005-07, Vol.112 (2), p.270-278

2005

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Long-term survival after hospitalization for acute heart failure — Differences in prognosis of acutely decompensated chronic and new-onset acute heart failure

International journal of cardiology, 2013-09, Vol.168 (1), p.458-462

2013

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Seasonal Changes in Brain Serotonin Transporter Binding in Short Serotonin Transporter Linked Polymorphic Region-Allele Carriers but Not in Long-Allele Homozygotes

Biological psychiatry (1969), 2010-06, Vol.67 (11), p.1033-1039

2010

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A thymic stromal lymphopoietin–responsive dendritic cell subset mediates allergic responses in the upper airway mucosa

Journal of allergy and clinical immunology, 2014-09, Vol.134 (3), p.613-621.e7

2014

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Multimodal Magnetic Resonance Imaging Assessment of White Matter Aging Trajectories Over the Lifespan of Healthy Individuals

Biological psychiatry (1969), 2012-12, Vol.72 (12), p.1026-1034

2012

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Identification of Late-Onset Hypogonadism in Middle-Aged and Elderly Men

88th Annual Meeting of the Endocrine-Society,2006-06-24 - 2006-06-27, 2010-07, Vol.363 (2), p.123-135

2010

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Effect of adrenaline on survival in out-of-hospital cardiac arrest: A randomised double-blind placebo-controlled trial

Resuscitation, 2011-09, Vol.82 (9), p.1138-1143

2011

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Hemolytic uremic syndrome associated with Denys-Drash syndrome

Sternal mass in an 11-year-old boy

Helicobacter pylori and Meckel's Diverticula

Leg pain and swelling in a 141/2-year-old boy

Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: Molecular and pathological analyses

Plastic bronchitis in children: A case series and review of the medical literature

Liver Histology and Alanine Aminotransferase Levels in Children and Adults with Chronic Hepatitis C Infection

Desmoplastic nested spindle cell tumor of liver: Report of four cases of a proposed new entity

Inflammatory pulmonary nodules in Kawasaki disease

Congenital panfollicular nevus: report of a new entity

A Rare Cause of Necrotizing and Crescentic Glomerulonephritis in a Young Adult Male

Nephrotic syndrome in the newborn

A 14-year-old girl with recumbent proteinuria

Inguinal swelling in a 5-year-old girl

Lymphocytopenia in children with lymphatic malformation

Alterations in the endocannabinoid system in the rat valproic acid model of autism

Serine is a natural ligand and allosteric activator of pyruvate kinase M2

Differential response of delayed healing and persistent inflammation at sites of overlapping sirolimus- or paclitaxel-eluting stents

Long-term survival after hospitalization for acute heart failure — Differences in prognosis of acutely decompensated chronic and new-onset acute heart failure

Seasonal Changes in Brain Serotonin Transporter Binding in Short Serotonin Transporter Linked Polymorphic Region-Allele Carriers but Not in Long-Allele Homozygotes

A thymic stromal lymphopoietin–responsive dendritic cell subset mediates allergic responses in the upper airway mucosa

Multimodal Magnetic Resonance Imaging Assessment of White Matter Aging Trajectories Over the Lifespan of Healthy Individuals

Identification of Late-Onset Hypogonadism in Middle-Aged and Elderly Men

Effect of adrenaline on survival in out-of-hospital cardiac arrest: A randomised double-blind placebo-controlled trial

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