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Structural and functional characteristics of the Val44Met insulin-like growth factor I missense mutation: correlation with effects on growth and development. [electronic resource] by
- Denley, Adam
- Wang, Chunxiao C
- McNeil, Kerrie A
- Walenkamp, Marie J E
- van Duyvenvoorde, Hermine
- Wit, Jan M
- Wallace, John C
- Norton, Raymond S
- Karperien, Marcel
- Forbes, Briony E
Producer: 20050628
In:
Molecular endocrinology (Baltimore, Md.) vol. 19
Availability: No items available.
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Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation. [electronic resource] by
- Walenkamp, Marie J E
- Vidarsdottir, Solrun
- Pereira, Alberto M
- Karperien, Marcel
- van Doorn, Jaap
- van Duyvenvoorde, Hermine A
- Breuning, Martijn H
- Roelfsema, Ferdinand
- Kruithof, M Femke
- van Dissel, Jaap
- Janssen, Riny
- Wit, Jan M
- Romijn, Johannes A
Producer: 20070329
In:
European journal of endocrinology vol. 156
Availability: No items available.
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Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. [electronic resource] by
- Vidarsdottir, Solrun
- Walenkamp, Marie J E
- Pereira, Alberto M
- Karperien, Marcel
- van Doorn, Jaap
- van Duyvenvoorde, Hermine A
- White, Stefan
- Breuning, Martijn H
- Roelfsema, Ferdinand
- Kruithof, M Femke
- van Dissel, Jaap
- Janssen, Riny
- Wit, Jan M
- Romijn, Johannes A
Producer: 20061012
In:
The Journal of clinical endocrinology and metabolism vol. 91
Availability: No items available.
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Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification. [electronic resource] by
- Walenkamp, Marie J E
- de Muinck Keizer-Schrama, Sabine M P F
- de Mos, Marianne
- Kalf, Margot E
- van Duyvenvoorde, Hermine A
- Boot, Annemieke M
- Kant, Sarina G
- White, Stefan J
- Losekoot, Monique
- Den Dunnen, Johan T
- Karperien, Marcel
- Wit, Jan M
Producer: 20080717
In:
The Journal of clinical endocrinology and metabolism vol. 93
Availability: No items available.
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Copy number variants in patients with short stature. [electronic resource] by
- van Duyvenvoorde, Hermine A
- Lui, Julian C
- Kant, Sarina G
- Oostdijk, Wilma
- Gijsbers, Antoinet C J
- Hoffer, Mariëtte J V
- Karperien, Marcel
- Walenkamp, Marie J E
- Noordam, Cees
- Voorhoeve, Paul G
- Mericq, Verónica
- Pereira, Alberto M
- Claahsen-van de Grinten, Hedi L
- van Gool, Sandy A
- Breuning, Martijn H
- Losekoot, Monique
- Baron, Jeffrey
- Ruivenkamp, Claudia A L
- Wit, Jan M
Producer: 20150126
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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