P. Jira

发表

Primrose syndrome: Characterization of the phenotype in 42 patients

R. Hennekam, B. Gener, C. Turnbull, 2020, Clinical genetics.

The use of typing methods and infection prevention measures to control a bullous impetigo outbreak on a neonatal ward

J. Kluytmans, M. Hermans, S. D. de Greeff, 2012, Antimicrobial Resistance and Infection Control.

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

P. Vreken, R. Hennekam, H. Waterham, 1998, American journal of human genetics.

Smith‐Lemli‐Opitz Syndrome and the DHCR7 Gene

H. Waterham, R. Wevers, R. Wanders, 2003, Annals of human genetics.

Eight years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects.

J. Rotteveel, H. van Wieringen, A. Hokken-Koelega, 2013, The Journal of clinical endocrinology and metabolism.

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

R. Hennekam, H. Waterham, R. Wanders, 2001, Annals of human genetics.

Prevalence of growth hormone (GH) deficiency in previously GH‐treated young adults with Prader‐Willi syndrome

A. Hokken-Koelega, Janielle A A E M van Alfen-van der Velden, P. Jira, 2019, Clinical endocrinology.

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene Waterham,

P. Vreken, R. Hennekam, H. Waterham, 1998 .

The Smith-Lemli-Opitz syndrome : A multiple malformation syndrome due to a defect in cholesterol biosynthesis

P. Jira, 2005 .

Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

N. Murphy, R. Hopkin, J. Marcos, 2004, American journal of medical genetics. Part A.

Smith-Lemli-Opitz Syndrome and the DHCR 7 Gene

H. Waterham, R. Wevers, R. Wanders, 2003 .

Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin

N. de Leeuw, E. Morava, L. Nijtmans, 2012, American journal of medical genetics. Part A.

Novel mutations in the 7‐dehydrocholesterol reductase gene of 13 patients with Smith–Lemli–Opitz syndrome

R. Hennekam, H. Waterham, R. Wanders, 2001 .

Simvastatin: a new therapeutic approach for Smith-Lemli-Opitz syndrome

R. Wevers, J. Smeitink, R. Sengers, 2000 .

Het Smith-Lemli-Opitz syndroom: een stoornis in de cholesterol biosynthese

R. Hennekam, R. Wevers, R. Wanders, 1997 .

Bone mineral density in children and adolescents with Prader-Willi syndrome: a longitudinal study during puberty and 9 years of growth hormone treatment.

J. Rotteveel, H. van Wieringen, A. Hokken-Koelega, 2015, The Journal of clinical endocrinology and metabolism.

Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.

J. Rotteveel, H. van Wieringen, A. Hokken-Koelega, 2012, The Journal of clinical endocrinology and metabolism.

FatalClostridium perfringens meningitis associated with insertion of a ventriculo-peritoneal shunt

J. Meis, P. Jira, S. Debast, 1993, European Journal of Clinical Microbiology and Infectious Diseases.

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, P. Hindmarsh, M. Kempers, 2011, The Journal of clinical endocrinology and metabolism.

The phenotype of recurrent 10q22q23 deletions and duplications

R. Pfundt, P. Stankiewicz, Ankita Patel, 2011, European Journal of Human Genetics.

SENS-U: continuous home monitoring of natural nocturnal bladder filling in children with nocturnal enuresis - a feasibility study.

P. Dik, P. Jira, P. van Leuteren, 2020, Journal of pediatric urology.

Carboxyhemoglobin in umbilical cord blood and maternal smoking

P. Jira, P. van 't Sant, K. Hengstler, 2019, Journal of perinatal medicine.

Efficacy and safety of long-term continuous growth hormone treatment in children with Prader-Willi syndrome.

J. Wit, J. Rotteveel, A. Hokken-Koelega, 2009, The Journal of clinical endocrinology and metabolism.

SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT

H. Brunner, L. Kluijtmans, L. Blaga, 2015 .

Cholesterol metabolism deficiency.

P. Jira, 2013, Handbook of clinical neurology.

New treatment strategy for Smith-Lemli-Opitz syndrome

R. Wevers, J. Smeitink, E. Rubio-Gozalbo, 1997, The Lancet.

Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome.

R. Wevers, U. Wendel, P. Jira, 1997, Clinical chemistry.

[Three hypotonic neonates with hypertrophic cardiomyopathy: Pompe's disease].

J. Smeitink, M. Willemsen, A. T. van der Ploeg, 1998, Nederlands tijdschrift voor geneeskunde.

Decreased bone density and treatment in patients with autosomal recessive cutis laxa

E. Morava, S. Funke, Z. Urban, 2009, Acta paediatrica.

The use of typing methods and infection prevention measures to control a bullous impetigo outbreak on a neonatal ward

J. Kluytmans, M. Hermans, S. D. de Greeff, 2012, Antimicrobial Resistance and Infection Control.

SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT

H. Brunner, L. Kluijtmans, L. Blaga, 2015 .