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Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. [electronic resource] by
- Flück, Christa E
- Pandey, Amit V
- Dick, Bernhard
- Camats, Núria
- Fernández-Cancio, Mónica
- Clemente, María
- Gussinyé, Miquel
- Carrascosa, Antonio
- Mullis, Primus E
- Audi, Laura
Producer: 20110922
In:
PloS one vol. 6
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85.
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86.
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87.
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Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion. [electronic resource] by
- Salemi, Souzan
- Yousefi, Shida
- Baltensperger, Kurt
- Robinson, Iain C A F
- Eblé, Andrée
- Simon, Dominique
- Czernichow, Paul
- Binder, Gerhard
- Sonnet, Emmanuel
- Mullis, Primus E
Producer: 20060209
In:
European journal of endocrinology vol. 153
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88.
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Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study. [electronic resource] by
- Mullis, Primus E
- Robinson, Iain C A F
- Salemi, Souzan
- Eblé, Andrée
- Besson, Amélie
- Vuissoz, Jean-Marc
- Deladoey, Johnny
- Simon, Dominique
- Czernichow, Paul
- Binder, Gerhard
Producer: 20050531
In:
The Journal of clinical endocrinology and metabolism vol. 90
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89.
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Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency. [electronic resource] by
- Petkovic, Vibor
- Lochmatter, Didier
- Turton, James
- Clayton, Peter E
- Trainer, Peter J
- Dattani, Mehul T
- Eblé, Andrée
- Robinson, Iain C
- Flück, Christa E
- Mullis, Primus E
Producer: 20080102
In:
The Journal of clinical endocrinology and metabolism vol. 92
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91.
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Radiometrical, hormonal and biological correlates of skeletal growth in the female rat from birth to senescence. [electronic resource] by
- del Pozo, Emilio
- Janner, Marco
- Mackenzie, Andrew R
- Arampatzis, Spyridon
- Dixon, Arnold K
- Perrelet, Romain
- Ruch, Walter
- Lippuner, Kurt
- Zapf, Juergen
- Lamberts, Steven W
- Mullis, Primus E
Producer: 20150109
In:
Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society vol. 24
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92.
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Natural history of growth hormone deficiency in a pediatric cohort. [electronic resource] by
- Deillon, Eva
- Hauschild, Michael
- Faouzi, Mohamed
- Stoppa-Vaucher, Sophie
- Elowe-Gruau, Eglantine
- Dwyer, Andrew
- Theintz, Gerald E
- Dubuis, Jean-Michel
- Mullis, Primus E
- Pitteloud, Nelly
- Phan-Hug, Franziska
Producer: 20160223
In:
Hormone research in paediatrics vol. 83
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93.
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Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency. [electronic resource] by
- Miletta, Maria Consolata
- Scheidegger, Ursina A
- Giordano, Mara
- Bozzola, Mauro
- Pagani, Sara
- Bona, Gianni
- Dattani, Mehul
- Hindmarsh, Peter C
- Petkovic, Vibor
- Oser-Meier, Monika
- Flück, Christa E
- Mullis, Primus-E
Producer: 20120823
In:
Clinical endocrinology vol. 76
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94.
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Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype. [electronic resource] by
- Camats, Núria
- Fernández-Cancio, Mónica
- Audí, Laura
- Mullis, Primus E
- Moreno, Francisca
- González Casado, Isabel
- López-Siguero, Juan Pedro
- Corripio, Raquel
- Bermúdez de la Vega, José Antonio
- Blanco, José Antonio
- Flück, Christa E
Producer: 20160623
In:
PloS one vol. 10
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95.
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Growth hormone receptor polymorphism and growth hormone therapy response in children: a Bayesian meta-analysis. [electronic resource] by
- Renehan, Andrew G
- Solomon, Mattea
- Zwahlen, Marcel
- Morjaria, Reena
- Whatmore, Andrew
- Audí, Laura
- Binder, Gerhard
- Blum, Werner
- Bougnères, Pierre
- Santos, Christine Dos
- Carrascosa, Antonio
- Hokken-Koelega, Anita
- Jorge, Alexander
- Mullis, Primus E
- Tauber, Maïthé
- Patel, Leena
- Clayton, Peter E
Producer: 20120626
In:
American journal of epidemiology vol. 175
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96.
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A cross-sectional international survey of continuous subcutaneous insulin infusion in 377 children and adolescents with type 1 diabetes mellitus from 10 countries. [electronic resource] by
- Danne, Thomas
- Battelino, Tadej
- Kordonouri, Olga
- Hanas, Ragnar
- Klinkert, Christof
- Ludvigsson, Johnny
- Barrio, Raquel
- Aebi, Christine
- Gschwend, Sylvia
- Mullis, Primus-E
- Schumacher, Urs
- Zumsteg, Urs
- Morandi, Anita
- Rabbone, Ivana
- Cherubini, Valentino
- Toni, Sonia
- de Beaufort, Carine
- Hindmarsh, Peter
- Sumner, Alex
- van Waarde, Willie M
- van den Berg, Norbert
- Phillip, Moshe
Producer: 20060307
In:
Pediatric diabetes vol. 6
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97.
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Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. [electronic resource] by
- Alatzoglou, Kyriaki S
- Turton, James P
- Kelberman, Daniel
- Clayton, Peter E
- Mehta, Ameeta
- Buchanan, Charles
- Aylwin, Simon
- Crowne, Elisabeth C
- Christesen, Henrik T
- Hertel, Niels T
- Trainer, Peter J
- Savage, Martin O
- Raza, Jamal
- Banerjee, Kausik
- Sinha, Sunil K
- Ten, Svetlana
- Mushtaq, Talat
- Brauner, Raja
- Cheetham, Timothy D
- Hindmarsh, Peter C
- Mullis, Primus E
- Dattani, Mehul T
Producer: 20090923
In:
The Journal of clinical endocrinology and metabolism vol. 94
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98.
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Description of the SAGhE Cohort: A Large European Study of Mortality and Cancer Incidence Risks after Childhood Treatment with Recombinant Growth Hormone. [electronic resource] by
- Swerdlow, Anthony J
- Cooke, Rosie
- Albertsson-Wikland, Kerstin
- Borgström, Birgit
- Butler, Gary
- Cianfarani, Stefano
- Clayton, Peter
- Coste, Joël
- Deodati, Annalisa
- Ecosse, Emmanuel
- Gausche, Ruth
- Giacomozzi, Claudio
- Kiess, Wieland
- Hokken-Koelega, Anita C S
- Kuehni, Claudia E
- Landier, Fabienne
- Maes, Marc
- Mullis, Primus-E
- Pfaffle, Roland
- Sävendahl, Lars
- Sommer, Grit
- Thomas, Muriel
- Tollerfield, Sally
- Zandwijken, Gladys R J
- Carel, Jean-Claude
Producer: 20160629
In:
Hormone research in paediatrics vol. 84
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99.
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Cancer Risks in Patients Treated With Growth Hormone in Childhood: The SAGhE European Cohort Study. [electronic resource] by
- Swerdlow, Anthony J
- Cooke, Rosie
- Beckers, Dominique
- Borgström, Birgit
- Butler, Gary
- Carel, Jean-Claude
- Cianfarani, Stefano
- Clayton, Peter
- Coste, Joël
- Deodati, Annalisa
- Ecosse, Emmanuel
- Gausche, Ruth
- Giacomozzi, Claudio
- Hokken-Koelega, Anita C S
- Khan, Aysha J
- Kiess, Wieland
- Kuehni, Claudia E
- Mullis, Primus-E
- Pfaffle, Roland
- Sävendahl, Lars
- Sommer, Grit
- Thomas, Muriel
- Tidblad, Anders
- Tollerfield, Sally
- Van Eycken, Liesbet
- Zandwijken, Gladys R J
Producer: 20170911
In:
The Journal of clinical endocrinology and metabolism vol. 102
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100.
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. [electronic resource] by
- Syrbe, Steffen
- Hedrich, Ulrike B S
- Riesch, Erik
- Djémié, Tania
- Müller, Stephan
- Møller, Rikke S
- Maher, Bridget
- Hernandez-Hernandez, Laura
- Synofzik, Matthis
- Caglayan, Hande S
- Arslan, Mutluay
- Serratosa, José M
- Nothnagel, Michael
- May, Patrick
- Krause, Roland
- Löffler, Heidrun
- Detert, Katja
- Dorn, Thomas
- Vogt, Heinrich
- Krämer, Günter
- Schöls, Ludger
- Mullis, Primus E
- Linnankivi, Tarja
- Lehesjoki, Anna-Elina
- Sterbova, Katalin
- Craiu, Dana C
- Hoffman-Zacharska, Dorota
- Korff, Christian M
- Weber, Yvonne G
- Steinlin, Maja
- Gallati, Sabina
- Bertsche, Astrid
- Bernhard, Matthias K
- Merkenschlager, Andreas
- Kiess, Wieland
- Gonzalez, Michael
- Züchner, Stephan
- Palotie, Aarno
- Suls, Arvid
- De Jonghe, Peter
- Helbig, Ingo
- Biskup, Saskia
- Wolff, Markus
- Maljevic, Snezana
- Schüle, Rebecca
- Sisodiya, Sanjay M
- Weckhuysen, Sarah
- Lerche, Holger
- Lemke, Johannes R
Producer: 20150612
In:
Nature genetics vol. 47
Availability: No items available.
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