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Myopathology in patients with a Noonan phenotype

Acta neuropathologica, 1996-12, Vol.92 (6), p.597-602

1996

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Rubinstein-Taybi syndrome in a mother and son

European journal of pediatrics, 1989-02, Vol.148 (5), p.439-441

1989

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Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism

The journal of clinical endocrinology and metabolism, 2001-03, Vol.86 (3), p.1164-1168

2001

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Fabrication and characterization of an asymmetric polyurethane membrane for use as a wound dressing

Journal of applied biomaterials, 1992-12, Vol.3 (4), p.287-303

1992

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Nail-patella syndrome : Identification of mutations in the LMX1B gene in Dutch families

Journal of the American Society of Nephrology, 2000-09, Vol.11 (9), p.1762-1766

2000

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Ectrodactyly in sisters and half sisters

Journal of medical genetics, 1988-02, Vol.25 (2), p.134-135

1988

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A CASE OF FOCAL DERMAL HYPOPLASIA (GOLTZ SYNDROME) WITH SOME NEW ASPECTS

Acta Paediatrica, 1977-03, Vol.66 (2), p.255-256

1977

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Nephropathy in hereditary osteo-onycho dysplasia (HOOD): variable expression or genetic heterogeneity?

Progress in clinical and biological research, 1989, Vol.305, p.157

1989

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Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins

Acta neuropathologica, 1981, Vol.54 (1), p.11-17

1981

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THE IMP DEHYDROGENASE CATALYSED REACTION IN ERYTHROCYTES OF NORMAL INDIVIDUALS AND PATIENTS WITH HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY

Acta Paediatrica, 1974-01, Vol.63 (1), p.140-142

1974

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An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies

Clinical genetics, 1973, Vol.4 (4), p.353-359

1973

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Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome

Clinica chimica acta, 1987-06, Vol.166 (1), p.45-56

1987

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The TINU syndrome in children (tubular interstitial nephritis with uveitis)

Tijdschrift voor kindergeneeskunde, 1989-12, Vol.57 (6), p.225-229

1989

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The yield of autopsies in a pediatric practice

Tijdschrift voor kindergeneeskunde, 1989-04, Vol.57 (2), p.41-44

1989

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Neonatal icterus, a neglected threat to our country?

Nederlands tijdschrift voor geneeskunde, 1980-10, Vol.124 (40), p.1685

1980

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A prospective study of pre-trauma risk factors for post-traumatic stress disorder and depression

Psychological medicine, 2016-09, Vol.46 (12), p.2571-2582

2016

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The importance of pressure registration in mask-balloon ventilation

Tijdschrift voor kindergeneeskunde, 1985-08, Vol.53 (4), p.145-147

1985

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Hereditary onycho-osteodysplasia (HOOD)

Tijdschrift voor kindergeneeskunde, 1988-12, Vol.56 (6), p.298-303

1988

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Ectrodactyly in sisters and half sisters

Journal of medical genetics, 1988, Vol.25 (2), p.134-135

1988

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A CASE OF FOCAL DERMAL HYPOPLASIA (GOLTZ SYNDROME) WITH SOME NEW ASPECTS

Acta Pædiatrica, 1977, Vol.66 (2), p.255-256

1977

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Familial polyposis of the colon

Nederlands tijdschrift voor geneeskunde, 1981-10, Vol.125 (43), p.1749

1981

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An intrapartal silent oscillation type in fetal Wolff-Parkinson-White syndrome

Zeitschrift fur Geburtshilfe und Perinatologie, 1984-01, Vol.188 (1), p.45

1984

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CONCENTRATION OF PURINE NUCLEOTIDES IN ERYTHROCYTES OF PATIENTS WITH THE LESCH-NYHAN SYNDROME BEFORE AND DURING ORAL ADMINISTRATION OF ADENINE

Acta Pædiatrica, 1971-11, Vol.60 (6), p.642-646

1971

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An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome)

Clinical genetics, 1973-07, Vol.4 (4), p.353-359

1973

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Hilling of Transplanted Seedlings from Novel Hybrid True Potato Seeds Does Not Enhance Tuber Yield but Can Affect Tuber Size Distribution

Potato research, 2021-09, Vol.64 (3), p.353-374

2021

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Myopathology in patients with a Noonan phenotype

Rubinstein-Taybi syndrome in a mother and son

Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism

Fabrication and characterization of an asymmetric polyurethane membrane for use as a wound dressing

Nail-patella syndrome : Identification of mutations in the LMX1B gene in Dutch families

Ectrodactyly in sisters and half sisters

A CASE OF FOCAL DERMAL HYPOPLASIA (GOLTZ SYNDROME) WITH SOME NEW ASPECTS

Nephropathy in hereditary osteo-onycho dysplasia (HOOD): variable expression or genetic heterogeneity?

Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins

THE IMP DEHYDROGENASE CATALYSED REACTION IN ERYTHROCYTES OF NORMAL INDIVIDUALS AND PATIENTS WITH HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies

Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome

The TINU syndrome in children (tubular interstitial nephritis with uveitis)

The yield of autopsies in a pediatric practice

Neonatal icterus, a neglected threat to our country?

A prospective study of pre-trauma risk factors for post-traumatic stress disorder and depression

The importance of pressure registration in mask-balloon ventilation

Hereditary onycho-osteodysplasia (HOOD)

Ectrodactyly in sisters and half sisters

A CASE OF FOCAL DERMAL HYPOPLASIA (GOLTZ SYNDROME) WITH SOME NEW ASPECTS

Familial polyposis of the colon

An intrapartal silent oscillation type in fetal Wolff-Parkinson-White syndrome

CONCENTRATION OF PURINE NUCLEOTIDES IN ERYTHROCYTES OF PATIENTS WITH THE LESCH-NYHAN SYNDROME BEFORE AND DURING ORAL ADMINISTRATION OF ADENINE

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome)

Hilling of Transplanted Seedlings from Novel Hybrid True Potato Seeds Does Not Enhance Tuber Yield but Can Affect Tuber Size Distribution

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