Long‐term outcomes for females with early‐onset dystrophinopathy von Houwen‐van Opstal, Saskia L. S., Tak, Ramon O., Pelsma, Maaike, Heuvel, Frederik M. A., Duyvenvoorde, Hermine A., Cup, Edith H. C., Sie, Lilian T. L., Vles, Johan S. H., Groot, Imelda J. M., Voermans, Nicol C., Willemsen, Michel A. A. P.

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MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature von Wit, Jan M, Oostdijk, Wilma, Losekoot, Monique, van Duyvenvoorde, Hermine A, Ruivenkamp, Claudia A L, Kant, Sarina G

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TGDS pathogenic variants cause Catel‐Manzke syndrome without hyperphalangy von Boschann, Felix, Stuurman, Kyra E., Bruin, Christiaan, Slegtenhorst, Marjon, Duyvenvoorde, Hermine A., Kant, Sarina G., Ehmke, Nadja

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An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities von Hannema, Sabine E, van Duyvenvoorde, Hermine A, Premsler, Thomas, Yang, Ruey-Bing, Mueller, Thomas D, Gassner, Birgit, Oberwinkler, Heike, Roelfsema, Ferdinand, Santen, Gijs W. E, Prickett, Timothy, Kant, Sarina G, Verkerk, Annemieke J. M. H, Uitterlinden, André G, Espiner, Eric, Ruivenkamp, Claudia A. L, Oostdijk, Wilma, Pereira, Alberto M, Losekoot, Monique, Kuhn, Michaela, Wit, Jan M

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Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes von Weiss, Birgit, Eberle, Birgit, Roeth, Ralph, de Bruin, Christiaan, Lui, Julian C, Paramasivam, Nagarajan, Hinderhofer, Katrin, van Duyvenvoorde, Hermine A, Baron, Jeffrey, Wit, Jan M, Rappold, Gudrun A

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A novel variant of FGFR3 causes proportionate short stature von Kant, Sarina G, Cervenkova, Iveta, Balek, Lukas, Trantirek, Lukas, Santen, Gijs W E, de Vries, Martine C, van Duyvenvoorde, Hermine A, van der Wielen, Michiel J R, Verkerk, Annemieke J M H, Uitterlinden, André G, Hannema, Sabine E, Wit, Jan M, Oostdijk, Wilma, Krejci, Pavel, Losekoot, Monique

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Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives von Synofzik, Matthis, van Roon-Mom, Willeke M C, Marckmann, Georg, van Duyvenvoorde, Hermine A, Graessner, Holm, Schüle, Rebecca, Aartsma-Rus, Annemieke

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Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium von Fofanova-Gambetti, Olga V., Hwa, Vivian, Wit, Jan M., Domene, Horacio M., Argente, Jesús, Bang, Peter, Högler, Wolfgang, Kirsch, Susan, Pihoker, Catherine, Chiu, Harvey K., Cohen, Laurie, Jacobsen, Christina, Jasper, Hector G., Haeusler, Gabriele, Campos-Barros, Angel, Gallego-Gómez, Elena, Gracia-Bouthelier, Ricardo, van Duyvenvoorde, Hermine A., Pozo, Jesús, Rosenfeld, Ron G.

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Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences von Domené, Horacio M., Hwa, Vivian, Argente, Jesús, Wit, Jan M., Camacho-Hübner, Cecilia, Jasper, Héctor G., Pozo, Jesús, van Duyvenvoorde, Hermine A., Yakar, Shoshana, Fofanova-Gambetti, Olga V., Rosenfeld, Ron G.

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Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor von Walenkamp, Marie J E, Robers, Jasmijn M L, Wit, Jan M, Zandwijken, Gladys R J, van Duyvenvoorde, Hermine A, Oostdijk, Wilma, Hokken-Koelega, Anita C S, Kant, Sarina G, Losekoot, Monique

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Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion von Wit, Jan M., Joustra, Sjoerd D., Losekoot, Monique, van Duyvenvoorde, Hermine A., de Bruin, Christiaan

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Copy Number Variants in Short Children Born Small for Gestational Age von Wit, Jan M., van Duyvenvoorde, Hermine A., van Klinken, Jan B., Caliebe, Janina, Bosch, Cathy A.J., Lui, Julian C., Gijsbers, Antoinet C.J., Bakker, Egbert, Breuning, Martijn H., Oostdijk, Wilma, Losekoot, Monique, Baron, Jeffrey, Binder, Gerhard, Ranke, Michael B., Ruivenkamp, Claudia A.L.

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An XRCC4 Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome von de Bruin, Christiaan, Mericq, Verónica, Andrew, Shayne F, van Duyvenvoorde, Hermine A, Verkaik, Nicole S, Losekoot, Monique, Porollo, Aleksey, Garcia, Hernán, Kuang, Yi, Hanson, Dan, Clayton, Peter, van Gent, Dik C, Wit, Jan M, Hwa, Vivian, Dauber, Andrew

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An Activating Deletion Variant in the Submembrane Region of Natriuretic Peptide Receptor-B Causes Tall Stature von Lauffer, Peter, Miranda-Laferte, Erick, van Duyvenvoorde, Hermine A, van Haeringen, Arie, Werner, Franziska, Boudin, Eveline, Schmidt, Hannes, Mueller, Thomas D, Kuhn, Michaela, van der Kaay, Daniëlle C M

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Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy von Koopmann, Tamara T, Jamshidi, Yalda, Naghibi-Sistani, Mohammad, van der Klift, Heleen M, Birjandi, Hassan, Al-Hassnan, Zuhair, Alwadai, Abdullah, Zifarelli, Giovanni, Karimiani, Ehsan G, Sedighzadeh, Sahar, Bahreini, Amir, Nouri, Nayereh, Peter, Merlene, Watanabe, Kyoko, van Duyvenvoorde, Hermine A, Ruivenkamp, Claudia A L, Teunissen, Aalbertine K K, Ten Harkel, Arend D J, van Duinen, Sjoerd G, Haak, Monique C, Prada, Carlos E, Santen, Gijs W E, Maroofian, Reza

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Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height von Lin, Yingbo, van Duyvenvoorde, Hermine A, Liu, Hongyu, Yang, Chen, Warsito, Dudi, Yin, Chang, Kant, Sarina G, Haglund, Felix, Wit, Jan M, Larsson, Olle

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Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1 von Riquelme, Joel, Takada, Sanami, van Dijk, Tessa, Peña, Fernanda, Boogaard, Merel W., van Duyvenvoorde, Hermine A., Pico-Knijnenburg, Ingrid, Wit, Jan M., van der Burg, Mirjam, Mericq, Veronica, Losekoot, Monique

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The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience von Aartsma-Rus, Annemieke, De Waele, Liesbeth, Houwen-Opstal, Saskia, Kirschner, Janbernd, Krom, Yvonne D., Mercuri, Eugenio, Niks, Erik H., Straub, Volker, van Duyvenvoorde, Hermine A., Vroom, Elizabeth

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Copy number variants in patients with short stature von 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

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A Human Variant of Glucose-Regulated Protein 94 That Inefficiently Supports IGF Production von Marzec, Michal, Hawkes, Colin P, Eletto, Davide, Boyle, Sarah, Rosenfeld, Ron, Hwa, Vivian, Wit, Jan M, van Duyvenvoorde, Hermine A, Oostdijk, Wilma, Losekoot, Monique, Pedersen, Oluf, Yeap, Bu Beng, Flicker, Leon, Barzilai, Nir, Atzmon, Gil, Grimberg, Adda, Argon, Yair

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