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Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency
Farooqi, I. Sadaf, Yeo, Giles S.H., Keogh, Julia M., Aminian, Shiva, Jebb, Susan A., Butler, Gary, Cheetham, Tim, O’Rahilly, Stephen
Published in The Journal of clinical investigation (01.07.2000)
Published in The Journal of clinical investigation (01.07.2000)
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A Novel Loss-of-Function Mutation, Gln459Arg, of the Calcium-Sensing Receptor Gene Associated with Apparent Autosomal Recessive Inheritance of Familial Hypocalciuric Hypercalcemia
Lietman, Steven A., Tenenbaum-Rakover, Yardena, Jap, Tjin Shing, Yi-Chi, Wu, De-Ming, Yang, Ding, Changlin, Kussiny, Najat, Levine, Michael A.
Published in The journal of clinical endocrinology and metabolism (01.11.2009)
Published in The journal of clinical endocrinology and metabolism (01.11.2009)
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Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes
Zenteno, Juan C., Arce-Gonzalez, Rocio, Matsui, Rodrigo, Lopez-Bolaños, Antonio, Montes, Luis, Martinez-Aguilar, Alan, Chacon-Camacho, Oscar F.
Published in Graefe's archive for clinical and experimental ophthalmology (01.02.2023)
Published in Graefe's archive for clinical and experimental ophthalmology (01.02.2023)
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Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene
Takeda, K, Sakurai, A, DeGroot, L J, Refetoff, S
Published in The journal of clinical endocrinology and metabolism (01.01.1992)
Published in The journal of clinical endocrinology and metabolism (01.01.1992)
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LTBP2‐related “Marfan‐like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant
Morlino, Silvia, Alesi, Viola, Calì, Federica, Lepri, Francesca Romana, Secinaro, Aurelio, Grammatico, Paola, Novelli, Antonio, Drago, Fabrizio, Castori, Marco, Baban, Anwar
Published in American journal of medical genetics. Part A (01.01.2019)
Published in American journal of medical genetics. Part A (01.01.2019)
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Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
Ghasemi, Mohammad-Reza, Sadeghi, Hossein, Hashemi-Gorji, Farzad, Mirfakhraie, Reza, Gupta, Vijay, Ben-Mahmoud, Afif, Bagheri, Saman, Razjouyan, Katayoon, Salehpour, Shadab, Tonekaboni, Seyed Hassan, Dianatpour, Mehdi, Omrani, Davood, Jang, Mi-Hyeon, Layman, Lawrence C., Miryounesi, Mohammad, Kim, Hyung-Goo
Published in BMC medical genomics (05.08.2024)
Published in BMC medical genomics (05.08.2024)
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Human phenotype caused by biallelic KDM4B frameshift variant
Takada, Sanami, Silva, Sebastián, Zamorano, Ivonne, Pérez, Andrea, Iwabuchi, Chisato, Miyake, Noriko
Published in Clinical genetics (01.01.2024)
Published in Clinical genetics (01.01.2024)
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A Novel Loss-of-Function Mutation, Gln459Arg, of the Calcium-Sensing Receptor Gene Associated with Apparent Autosomal Recessive Inheritance of Familial Hypocalciuric Hypercalcemia
Lietman, Steven A., Tenenbaum-Rakover, Yardena, Jap, Tjin Shing, Yi-Chi, Wu, De-Ming, Yang, Ding, Changlin, Kussiny, Najat, Levine, Michael A.
Published in Endocrine reviews (01.10.2009)
Published in Endocrine reviews (01.10.2009)
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Application of IVDr NMR spectroscopy to stratify Parkinson’s disease with absolute quantitation of blood serum metabolites and lipoproteins
Berezhnoy, Georgy, Bae, Gyuntae, Wüst, Leonie, Schulte, Claudia, Cannet, Claire, Wurster, Isabel, Zimmermann, Milan, Jäck, Alexander, Spruth, Eike Jakob, Hellmann-Regen, Julian, Roeske, Sandra, Pürner, Dominik, Glanz, Wenzel, Maass, Fabian, Hufschmidt, Felix, Kilimann, Ingo, Dinter, Elisabeth, Kimmich, Okka, Gamez, Anna, Levin, Johannes, Priller, Josef, Peters, Oliver, Wagner, Michael, Storch, Alexander, Lingor, Paul, Düzel, Emrah, van Riesen, Christoph, Wüllner, Ullrich, Teipel, Stefan, Falkenburger, Björn, Bähr, Mathias, Zerr, Inga, Petzold, Gabor C., Spottke, Annika, Rizzu, Patricia, Brosseron, Frederic, Schäfer, Hartmut, Gasser, Thomas, Trautwein, Christoph
Published in Scientific reports (22.05.2025)
Published in Scientific reports (22.05.2025)
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Familial Infantile Myoclonic Epilepsy : Clinical Features in a Large Kindred with Autosomal Recessive Inheritance
De Falco, Fabrizio A., Majello, Luigi, Santangelo, Roberto, Stabile, Mariano, Bricarelli, Franca Dagna, Zara, Federico
Published in Epilepsia (Copenhagen) (01.12.2001)
Published in Epilepsia (Copenhagen) (01.12.2001)
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Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
Jung, Jinsei, Lee, Joon Suk, Cho, Kyeong Jee, Yu, Seyoung, Yoon, Joo-Heon, Yung Gee, Heon, Choi, Jae Young
Published in Scientific reports (06.04.2017)
Published in Scientific reports (06.04.2017)
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Personalized Medicine in Ophthalmic Diseases: Challenges and Opportunities
Year of Publication 2023
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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
Lam, Christina, Scaglia, Fernando, Berry, Gerard T., Larson, Austin, Sarafoglou, Kyriakie, Andersson, Hans C., Sklirou, Evgenia, Tan, Queenie K.G., Starosta, Rodrigo T., Sadek, Mustafa, Wolfe, Lynne, Horikoshi, Seishu, Ali, May, Barone, Rita, Campbell, Teresa, Chang, Irene J., Coles, Kiaira, Cook, Edward, Eklund, Erik A., Engelhardt, Nicole M., Freeman, Mary, Friedman, Jennifer, Fu, Debbie Y.T., Botzo, Grace, Rawls, Brandy, Hernandez, Christien, Johnsen, Christin, Keller, Kierstin, Kramer, Sara, Kuschel, Bryce, Leshinski, Angela, Martinez-Duncker, Ivan, Mazza, Gina L., Mercimek-Andrews, Saadet, Miller, Bradley S., Muthusamy, Karthik, Neira, Juanita, Patterson, Marc C., Pogorelc, Natalie, Powers, Lex N., Ramey, Elizabeth, Reinhart, Michaela, Squire, Audrey, Thies, Jenny, Vockley, Jerry, Vreugdenhil, Hayden, Witters, Peter, Youbi, Mehdi, Zeighami, Aziza, Zemet, Roni, Edmondson, Andrew C., Morava, Eva
Published in Molecular genetics and metabolism (01.08.2024)
Published in Molecular genetics and metabolism (01.08.2024)
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CDHR1 mutations in retinal dystrophies
Stingl, Katarina, Mayer, Anja K., Llavona, Pablo, Mulahasanovic, Lejla, Rudolph, Günther, Jacobson, Samuel G., Zrenner, Eberhart, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
Published in Scientific reports (01.08.2017)
Published in Scientific reports (01.08.2017)
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Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity
Kim, So Young, Park, Gibeom, Han, Kyu-Hee, Kim, Ahreum, Koo, Ja-Won, Chang, Sun O., Oh, Seung Ha, Park, Woong-Yang, Choi, Byung Yoon
Published in PloS one (25.04.2013)
Published in PloS one (25.04.2013)
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LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects
Horani, Amjad, Ferkol, Thomas W., Shoseyov, David, Wasserman, Mollie G., Oren, Yifat S., Kerem, Batsheva, Amirav, Israel, Cohen-Cymberknoh, Malena, Dutcher, Susan K., Brody, Steven L., Elpeleg, Orly, Kerem, Eitan
Published in PloS one (19.03.2013)
Published in PloS one (19.03.2013)
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