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Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency

European review for medical and pharmacological sciences, 2020-10, Vol.24 (19), p.10051

2020

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An infant with steroid-refractory cytomegalovirus-associated ADEM who responded to immunoglobulin therapy

European review for medical and pharmacological sciences, 2014, Vol.18 (15), p.2148

2014

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Efficacy and safety of pitavastatin in paediatric FH compared with other statins from Cochrane Database

Atherosclerosis, 2016-09, Vol.252, p.e211-e212

2016

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Impact of leptin and leptin-receptor gene polymorphisms on serum lipids in Japanese obese children

Acta Paediatrica, 2010-08, Vol.99 (8), p.1213-1217

2010

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Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

Journal of human genetics, 2015-09, Vol.60 (9), p.553-556

2015

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Serial EEG study in a girl with Landau-Kleffner syndrome associated with continuous spikes and waves during slow sleep

European review for medical and pharmacological sciences, 2014, Vol.18 (15), p.2145

2014

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Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature

European review for medical and pharmacological sciences, 2015-09, Vol.19 (17), p.3241

2015

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Long-term survival of full trisomy 13 in a 14 year old male: a case report

European review for medical and pharmacological sciences, 2016-03, Vol.20 (5), p.919

2016

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Acute encephalopathy associated with hemolytic uremic syndrome caused by Escherichia coli O157: H7 and rotavirus infection

European review for medical and pharmacological sciences, 2015-05, Vol.19 (10), p.1842

2015

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Brain hypothermia therapy for status epilepticus in childhood

European review for medical and pharmacological sciences, 2014-07, Vol.18 (13), p.1883

2014

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Efficacy and Safety of Salmeterol/fluticasone Combination Therapy in Infants and Preschool Children with Asthma Insufficiently Controlled by Inhaled Corticosteroids

Drug research, 2016-07, Vol.66 (7), p.371-376

2016

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Monosomy 5p and partial trisomy 8q due to maternal balanced translocation

Genetic counseling, 2013, Vol.24 (4), p.435

2013

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Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome

European review for medical and pharmacological sciences, 2016, Vol.20 (3), p.498

2016

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Early Adiposity Rebound and Small Dense Low-Density Lipoprotein in Childhood Obesity

Journal of Obesity & Weight Loss Therapy, 2016, Vol.6 (1)

2016

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Terminal deletion 6q syndrome with 11q partial trisomy mosaicism due to maternal balanced translocation

Genetic counseling, 2014, Vol.25 (1), p.63

2014

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Treatment with mild brain hypothermia for cardiopulmonary resuscitation after myoclonic seizures in infant with robertsonian type of trisomy 13

European review for medical and pharmacological sciences, 2015-08, Vol.19 (15), p.2852

2015

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Association of epithelial damage and signs of neutrophil mobilization in the airways during acute exacerbations of paediatric asthma

Clinical and experimental immunology, 2006-05, Vol.144 (2), p.212-216

2006

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Diagnosis of sex chromosomal abnormalities in neonatal intensive care units

Genetic counseling, 2013-01, Vol.24 (4), p.399

2013

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Partial epilepsy and developmental delay in infant with ring chromosome 14

Genetic counseling, 2013, Vol.24 (1), p.81

2013

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Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant

Genetic counseling, 2013-01, Vol.24 (4), p.441

2013

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Effect of fluvastatin and dipyridamole on proteinuria and renal function in childhood IgA nephropathy with mild histological findings and moderate proteinuria

Clinical nephrology, 2003-08, Vol.60 (2), p.85-89

2003

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Partial trisomy 3p and monosomy 5p diagnosed by spectral karyotyping (SKY)

Genetic counseling, 2013, Vol.24 (4), p.445

2013

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No effect of fluvastatin on the bone mineral density of children with minimal change glomerulonephritis and some focal mesangial cell proliferation, other than an ameliorating effect on their proteinuria

Clinical nephrology, 2005-02, Vol.63 (2), p.74-79

2005

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Hematopoietic stem cell transplantation for X-linked thrombocytopenia from a mild symptomatic carrier

Bone marrow transplantation (Basingstoke), 2010-03, Vol.45 (3), p.607-609

2010

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Biologically inactive growth hormone caused by an amino acid substitution

The Journal of clinical investigation, 1997-09, Vol.100 (5), p.1159-1165

1997

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Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency

An infant with steroid-refractory cytomegalovirus-associated ADEM who responded to immunoglobulin therapy

Efficacy and safety of pitavastatin in paediatric FH compared with other statins from Cochrane Database

Impact of leptin and leptin-receptor gene polymorphisms on serum lipids in Japanese obese children

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

Serial EEG study in a girl with Landau-Kleffner syndrome associated with continuous spikes and waves during slow sleep

Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature

Long-term survival of full trisomy 13 in a 14 year old male: a case report

Acute encephalopathy associated with hemolytic uremic syndrome caused by Escherichia coli O157: H7 and rotavirus infection

Brain hypothermia therapy for status epilepticus in childhood

Efficacy and Safety of Salmeterol/fluticasone Combination Therapy in Infants and Preschool Children with Asthma Insufficiently Controlled by Inhaled Corticosteroids

Monosomy 5p and partial trisomy 8q due to maternal balanced translocation

Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome

Early Adiposity Rebound and Small Dense Low-Density Lipoprotein in Childhood Obesity

Terminal deletion 6q syndrome with 11q partial trisomy mosaicism due to maternal balanced translocation

Treatment with mild brain hypothermia for cardiopulmonary resuscitation after myoclonic seizures in infant with robertsonian type of trisomy 13

Association of epithelial damage and signs of neutrophil mobilization in the airways during acute exacerbations of paediatric asthma

Diagnosis of sex chromosomal abnormalities in neonatal intensive care units

Partial epilepsy and developmental delay in infant with ring chromosome 14

Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant

Effect of fluvastatin and dipyridamole on proteinuria and renal function in childhood IgA nephropathy with mild histological findings and moderate proteinuria

Partial trisomy 3p and monosomy 5p diagnosed by spectral karyotyping (SKY)

No effect of fluvastatin on the bone mineral density of children with minimal change glomerulonephritis and some focal mesangial cell proliferation, other than an ameliorating effect on their proteinuria

Hematopoietic stem cell transplantation for X-linked thrombocytopenia from a mild symptomatic carrier

Biologically inactive growth hormone caused by an amino acid substitution

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