Arama Sonuçları - "Medical Genetics"

Systemic epidermal nevus with involvement of the oral mucosa due to <it>FGFR3 </it>mutation Yazar: Clemmensen Ole J, Fagerberg Christina R, Bygum Anette, Fiebig Britta, Hafner Christian

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Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction? Yazar: Lybæk Helle, Houge Gunnar, Gulati Sasha

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Uncovering the Role of Anoikis-Related Genes in Modulating Immune Infiltration and Pathogenesis of Diabetic Kidney Disease Yazar: Lin J, Lin Y, Li X, He F, Gao Q, Wang Y, Huang Z, Xiong F

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Prevalence of the CYP2D6*10&nbsp;(C100T), *4&nbsp;(G1846A), and *14&nbsp;(G1758A) alleles among Iranians of different ethnicities Yazar: Bagheri A, Kamalidehghan B, Haghshenas M, Azadfar P, Akbari L, Sangtarash MH, Vejdandoust F, Ahmadipour F, Meng GY, Houshm, M

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Genome-Wide Association Study of Alopecia Areata in Taiwan: The Conflict Between Individuals and Hair Follicles Yazar: Yang JS, Liu TY, Chen YC, Tsai SC, Chiu YJ, Liao CC, Tsai FJ

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Bioethics and the Holocaust A Comprehensive Study in How the Holocaust Continues to Shape the Ethics of Health, Medicine and Human Rights

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First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome Yazar: Justine Hugon-Rodin, Charlotte Sonigo, Anne Gompel, Catherine Dodé, Michael Grynberg, Nadine Binart, Isabelle Beau

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Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report Yazar: Bao Bihui, Zhang Liang, Hu Hua, Yin Shuxin, Liang Zhiqing

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Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection Yazar: Wenwen Zhang, Qian Han, Zhao Liu, Wei Zhou, Qing Cao, Weimin Zhou

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<it>ApoE</it> polymorphisms in narcolepsy Yazar: Kasten Meike, Wieczorek Stefan, Dahmen Norbert, Gencik Martin, Gencikova Alexandra, Epplen Jorg T

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NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report Yazar: Chun-Chun Hu, Yun-Jun Sun, Chun-xue Liu, Bing-rui Zhou, Chun-yang Li, Qiong Xu, Xiu Xu

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ACTA2 mutation and postpartum hemorrhage: a case report Yazar: Kylie Cooper, Stephen Brown

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Prenatal Diagnosis of Triploidy. Case Report and Literature Review Yazar: Pedro Alí Díaz-Véliz Jiménez, Belkis del Carmen Vidal Hernández, Iliana González Santana

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Relationship between interpersonal sensitivity and leukocyte telomere length Yazar: Akihito Suzuki, Yoshihiko Matsumoto, Masanori Enokido, Toshinori Shirata, Kaoru Goto, Koichi Otani

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Assessment of the feasibility of exon 45-55 multiexon skipping for duchenne muscular dystrophy Yazar: van Ommen Gert-Jan B, van Deutekom Judith CT, de Winter Christa L, van Vliet Laura, Aartsma-Rus Annemieke

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Cardiac manifestations of PRKAG2 mutation Yazar: Pooya Banankhah, Gregory A. Fishbein, Anthony Dota, Reza Ardehali

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A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD Yazar: Qian Wang, Wen Bin Wei, Xiang Yu Shi, Wei Ning Rong

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Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management Yazar: L. Ordieres-Ortega, F. Galeano-Valle, M. Mallén-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther, P. Demelo-Rodríguez

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Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report Yazar: Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In't Veld, Jean De Schepper, Andrew Hattersley, Harry Heimberg

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Genomic <it>NGFB </it>variation and multiple sclerosis in a case control study Yazar: Arning Larissa, Kruse Niels, Akkad Denis A, Gold Ralf, Epplen Jörg T

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