The prevalence and genotype of 21-hydroxylase deficiency in the Croatian Romani population von Dumic, Katja K, Grubic, Zorana, Kusec, Vesna, Braovac, Duje, Gotovac, Kristina, Vinkovic, Maja, Vucinic, Maja, Dumic, Miroslav

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Fertility and sexual activity in patients with Triple A syndrome von Dumic, Katja K, Heinrichs, Claudine, Koehler, Katrin, Huebner, Angela, Dumic, Miroslav, Kusec, Vesna, Dusek, Tina, Quitter, Friederike

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Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy von Dohr, Katrin A, Tokic, Silvija, Gastager-Ehgartner, Magdalena, Stojakovic, Tatjana, Dumic, Miroslav, Plecko, Barbara, Dumic, Katja K

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Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia von Dumic, Katja K., Grubic, Zorana, Yuen, Tony, Wilson, Robert C., Kusec, Vesna, Barisic, Ingeborg, Stingl, Katarina, Sansovic, Ivona, Skrabic, Veselin, Dumic, Miroslav, New, Maria I.

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Lowe syndrome – Old and new evidence of secondary mitochondrial dysfunction von Dumic, Katja K., Anticevic, Darko, Petrinovic-Doresic, Jelena, Zigman, Tamara, Zarković, Kamelija, Rokic, Filip, Vugrek, Oliver

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Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability von Pohovski, Leona Morozin, Dumic, Katja K, Odak, Ljubica, Barisic, Ingeborg

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Two Single Nucleotide Deletions in the IABCD1/I Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy von Dohr, Katrin A, Tokic, Silvija, Gastager-Ehgartner, Magdalena, Stojakovic, Tatjana, Dumic, Miroslav, Plecko, Barbara, Dumic, Katja K

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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability von Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.

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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome:WNT signaling perturbation and phenotypic variability von Zhang, Chaofan, Jolly, Angad, Shayota, Brian J, Mazzeu, Juliana F, Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Wainwright, Andrew, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D, Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N, Potocki, Lorraine, Chung, Wendy K, Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A, Mason, Kati, Pollack, Lynda C, McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S, Leahy, Peter, Powell, Cynthia M, Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R, Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M, Gibbs, Richard A, Posey, Jennifer E, Liu, Pengfei, Lupski, James R, Sutton, V Reid

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