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Hermine A. van Duyvenvoorde
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Journal Articles

IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Lauren D. Punt, Daniëlle C.M. van der Kaay, Petra A. van Setten, Kirsten de Groote, Anne R. Kruijsen, Gianni Bocca, Sonja A. de Munnik, Judith S. Renes, Christiaan de Bruin, Monique Losekoot, Hermine A. van Duyvenvoorde, Jan M. Wit, Sjoerd D. Joustra
Journal: Hormone Research in Paediatrics
Horm Res Paediatr 1–11.
https://doi.org/10.1159/000540053
Published Online: 28 June 2024
View article titled, IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients
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Journal Articles

Genetic Findings in Short Turkish Children Born to Consanguineous Parents

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Sjoerd D. Joustra, Emregul Isik, Jan M. Wit, Gonul Catli, Ahmet Anik, Belma Haliloglu, Nurgun Kandemir, Elif Ozsu, Yvonne M.C. Hendriks, Christiaan de Bruin, Sarina G. Kant, Angel Campos-Barros, Rachel C. Challis, David Parry, Margaret E. Harley, Andrew Jackson, Monique Losekoot, Hermine A. van Duyvenvoorde
Journal: Hormone Research in Paediatrics
Horm Res Paediatr 1–11.
https://doi.org/10.1159/000539696
Published Online: 05 June 2024
View article titled, Genetic Findings in Short Turkish Children Born to Consanguineous Parents
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Journal Articles

Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Judith S. Renes, Ardine M.J. Reedijk, Monique Losekoot, Sarina G. Kant, Manouk Van der Steen, Danielle C.M. Van der Kaay, Anita C.S. Hokken-Koelega, Hermine A. Van Duyvenvoorde, Christiaan de Bruin
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2024) 97 (5): 456–469.
https://doi.org/10.1159/000535651
Published Online: 17 January 2024
View article titled, Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data
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Journal Articles

Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Joel Riquelme, Sanami Takada, Tessa van Dijk, Fernanda Peña, Merel W. Boogaard, Hermine A. van Duyvenvoorde, Ingrid Pico-Knijnenburg, Jan M. Wit, Mirjam van der Burg, Veronica Mericq, Monique Losekoot
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2021) 94 (11-12): 448–455.
https://doi.org/10.1159/000520410
Published Online: 27 October 2021
View article titled, Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1
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Journal Articles

Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Jan M. Wit, Sjoerd D. Joustra, Monique Losekoot, Hermine A. van Duyvenvoorde, Christiaan de Bruin
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2021) 94 (3-4): 81–104.
https://doi.org/10.1159/000516407
Published Online: 04 June 2021
View article titled, Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion
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Journal Articles

Copy Number Variants in Short Children Born Small for Gestational Age

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Jan M. Wit, Hermine A. van Duyvenvoorde, Jan B. van Klinken, Janina Caliebe, Cathy A.J. Bosch, Julian C. Lui, Antoinet C.J. Gijsbers, Egbert Bakker, Martijn H. Breuning, Wilma Oostdijk, Monique Losekoot, Jeffrey Baron, Gerhard Binder, Michael B. Ranke, Claudia A.L. Ruivenkamp
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (5): 310–318.
https://doi.org/10.1159/000367712
Published Online: 08 October 2014
View article titled, Copy Number Variants in Short Children Born Small for Gestational Age
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Journal Articles

Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences

Available to Purchase
Subject Area:
Endocrinology , Women's and Children's Health
Horacio M. Domené, Vivian Hwa, Jesús Argente, Jan M. Wit, Cecilia Camacho-Hübner, Héctor G. Jasper, Jesús Pozo, Hermine A. van Duyvenvoorde, Shoshana Yakar, Olga V. Fofanova-Gambetti, Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Hormone Research (2009) 72 (3): 129–141.
https://doi.org/10.1159/000232486
Published Online: 01 September 2009
View article titled, Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences
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