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Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth. [electronic resource] by
- Cools, M
- Hoebeke, P
- Wolffenbuttel, K P
- Stoop, H
- Hersmus, R
- Barbaro, M
- Wedell, A
- Brüggenwirth, H
- Looijenga, L H J
- Drop, S L S
Producer: 20120320
In:
European journal of endocrinology vol. 166
Availability: No items available.
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Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects. [electronic resource] by
- Jöbsis, G J
- Louwerse, E S
- de Visser, M
- Wolterman, R A
- Bolhuis, P A
- Busch, H F
- Brüggenwirth, H T
- Baas, F
- Wiersinga, W M
- Koelman, J H
Producer: 19951124
In:
Journal of the neurological sciences vol. 129 Suppl
Availability: No items available.
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Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). [electronic resource] by
- Brunner, H G
- Brüggenwirth, H T
- Nillesen, W
- Jansen, G
- Hamel, B C
- Hoppe, R L
- de Die, C E
- Höweler, C J
- van Oost, B A
- Wieringa, B
Producer: 19931119
In:
American journal of human genetics vol. 53
Availability: No items available.
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Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB. [electronic resource] by
- Meijer, O L M
- Welling, L
- Valstar, M J
- Hoefsloot, L H
- Brüggenwirth, H T
- van der Ploeg, A T
- Ruijter, G J G
- Wagemans, T
- Wijburg, F A
- van Vlies, N
Producer: 20171207
In:
Journal of inherited metabolic disease vol. 39
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Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature. [electronic resource] by
- Klaassens, M
- Galjaard, R J H
- Scott, D A
- Brüggenwirth, H T
- van Opstal, D
- Fox, M V
- Higgins, R R
- Cohen-Overbeek, T E
- Schoonderwaldt, E M
- Lee, B
- Tibboel, D
- de Klein, A
Producer: 20071213
In:
American journal of medical genetics. Part A vol. 143A
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Survival and prognostic factors in BRCA1-associated breast cancer. [electronic resource] by
- Brekelmans, C T M
- Seynaeve, C
- Menke-Pluymers, M
- Brüggenwirth, H T
- Tilanus-Linthorst, M M A
- Bartels, C C M
- Kriege, M
- van Geel, A N
- Crepin, C M G
- Blom, J C
- Meijers-Heijboer, H
- Klijn, J G M
Producer: 20060927
In:
Annals of oncology : official journal of the European Society for Medical Oncology vol. 17
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Functional analysis of novel androgen receptor mutations in a unique cohort of Indonesian patients with a disorder of sex development. [electronic resource] by
- Elfferich, P
- Juniarto, A Z
- Dubbink, H J
- van Royen, M E
- Molier, M
- Hoogerbrugge, J
- Houtsmuller, A B
- Trapman, J
- Santosa, A
- de Jong, F H
- Drop, S L S
- Faradz, S M H
- Bruggenwirth, H
- Brinkmann, A O
Producer: 20100309
In:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 3
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Genotype versus phenotype in families with androgen insensitivity syndrome. [electronic resource] by
- Boehmer, A L
- Brinkmann, O
- Brüggenwirth, H
- van Assendelft, C
- Otten, B J
- Verleun-Mooijman, M C
- Niermeijer, M F
- Brunner, H G
- Rouwé, C W
- Waelkens, J J
- Oostdijk, W
- Kleijer, W J
- van der Kwast, T H
- de Vroede, M A
- Drop, S L
Producer: 20011011
In:
The Journal of clinical endocrinology and metabolism vol. 86
Availability: No items available.
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20.
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Prenatal and postnatal findings in small-for-gestational-age fetuses without structural ultrasound anomalies at 18-24 weeks. [electronic resource] by
- de Wit, M C
- Srebniak, M I
- Joosten, M
- Govaerts, L C P
- Kornelisse, R F
- Papatsonis, D N M
- de Graaff, K
- Knapen, M F C M
- Bruggenwirth, H T
- de Vries, F A T
- Van Veen, S
- Van Opstal, D
- Galjaard, R J H
- Go, A T J I
Producer: 20170828
In:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology vol. 49
Availability: No items available.
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