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	2401.	A new association between CDK5RAP2 microcephaly and congenital cataracts. [electronic resource] by Alfares, Ahmed Alhufayti, Ibtihal Alsubaie, Lamia Alowain, Mohammed Almass, Rawan Alfadhel, Majid Kaya, Namik Eyaid, Wafaa Producer: 20190626 In: Annals of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2402.	Unusual retinopathy in a child with severe combined immune deficiency. [electronic resource] by Gerth-Kahlert, Christina Tiwari, Amit Hauri-Hohl, Mathias M Hanson, James V M Bahr, Angela Palmowski-Wolfe, Anja Güngör, Tayfun Berger, Wolfgang Producer: 20180326 In: Ophthalmic genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2403.	Lack of FOXE3 coding mutation in a case of congenital aphakia. [electronic resource] by Sano, Yusuke Matsukane, Yusuke Watanabe, Akihisa Sonoda, Ko-Hei Kondo, Hiroyuki Producer: 20180326 In: Ophthalmic genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2404.	PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa. [electronic resource] by Knopp, C Häusler, M Müller, B Damen, R Stoppe, A Mull, M Elbracht, M Kurth, I Begemann, M Producer: 20200504 In: Parkinsonism & related disorders vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2405.	Unmasking familial CPX by WES and identification of novel clinical signs. [electronic resource] by Demeer, Bénédicte Revencu, Nicole Helaers, Raphael Devauchelle, Bernard François, Geneviève Bayet, Bénédicte Vikkula, Miikka Producer: 20191029 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2406.	Biallelic mutations in PMFBP1 cause acephalic spermatozoa. [electronic resource] by Sha, Yan-Wei Wang, Xiong Xu, Xiaohui Ding, Lu Liu, Wen-Sheng Li, Ping Su, Zhi-Ying Chen, Jing Mei, Li-Bin Zheng, Liang-Kai Wang, Hai-Long Kong, Shuang-Bo You, Min Wu, Jian-Feng Producer: 20200330 In: Clinical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2407.	Chemokine Expression in Murine RPE/Choroid in Response to Systemic Viral Infection and Elevated Levels of Circulating Interferon-γ. [electronic resource] by Faber, Carsten Juel, Helene Bæk Jensen, Benjamin Anderschou Holbech Christensen, Jan Pravsgaard Prause, Jan Ulrik Thomsen, Allan Randrup Nissen, Mogens Holst Producer: 20190624 In: Investigative ophthalmology & visual science vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2408.	Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene. [electronic resource] by Patowary, Ashok Won, So Yeon Oh, Shin Ji Nesbitt, Ryan R Archer, Marilyn Nickerson, Debbie Raskind, Wendy H Bernier, Raphael Lee, Ji Eun Brkanac, Zoran Producer: 20190610 In: Translational psychiatry vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2409.	Identification of microRNA expression in sentinel lymph nodes from patients with breast cancer via RNA sequencing for diagnostic accuracy. [electronic resource] by Sun, Desheng Zhong, Jieyu Wei, Wei Chen, Xiangmei Liu, Jun Hu, Zhengming Producer: 20200504 In: The journal of gene medicine vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2410.	The genomics of major psychiatric disorders in a large pedigree from Northern Sweden. [electronic resource] by Szatkiewicz, Jin Crowley, James J Adolfsson, Annelie Nordin Åberg, Karolina A Alaerts, Maaike Genovese, Giulio McCarroll, Steven Del-Favero, Jurgen Adolfsson, Rolf Sullivan, Patrick F Producer: 20190620 In: Translational psychiatry vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2411.	Somatic and germline genomics in paediatric acute lymphoblastic leukaemia. [electronic resource] by Pui, Ching-Hon Nichols, Kim E Yang, Jun J Producer: 20190709 In: Nature reviews. Clinical oncology vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2412.	Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. [electronic resource] by Walker, Melissa A Lerman-Sagie, Tally Swoboda, Kathryn Lev, Dorit Blumkin, Lubov Producer: 20200728 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2413.	Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype. [electronic resource] by Jezela-Stanek, Aleksandra Murcia, Pienkowski Victor Jurkiewicz, Dorota Iwanicka-Pronicka, Katarzyna Jędrzejowska, Maria Krajewska-Walasek, Małgorzata Płoski, Rafał Producer: 20191206 In: Clinical dysmorphology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2414.	De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype. [electronic resource] by Jiang, Yanrui Sun, Huizhen Lin, Qingmin Wang, Zengge Wang, Guanghai Wang, Jian Jiang, Fan Yao, Ruen Producer: 20191202 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2415.	A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. [electronic resource] by Helbig, Ingo Lopez-Hernandez, Tania Shor, Oded Galer, Peter Ganesan, Shiva Pendziwiat, Manuela Rademacher, Annika Ellis, Colin A Hümpfer, Nadja Schwarz, Niklas Seiffert, Simone Peeden, Joseph Shen, Joseph Štěrbová, Katalin Hammer, Trine Bjørg Møller, Rikke S Shinde, Deepali N Tang, Sha Smith, Lacey Poduri, Annapurna Krause, Roland Benninger, Felix Helbig, Katherine L Haucke, Volker Weber, Yvonne G Producer: 20200311 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2416.	Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the [electronic resource] by Kiraly-Borri, Catherine Jevon, Gareth Ji, Weizhen Jeffries, Lauren Ricciardi, Jamie-Lee Konstantino, Monica Ackerman, Kate G Lakhani, Saquib A Producer: 20200526 In: Cold Spring Harbor molecular case studies vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2417.	Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients. [electronic resource] by Yamada, Kazuo Watanabe, Atsushi Takeshita, Haruo Fujita, Atsushi Miyake, Noriko Matsumoto, Naomichi Matsumoto, Ken-Ichi Producer: 20200127 In: Biological & pharmaceutical bulletin vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2418.	Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness. [electronic resource] by Lv, Yuan Gu, Jia Qiu, Hao Li, Huan Zhang, Zhitao Yin, Shaowei Mao, Yan Kong, Lingyin Liang, Bo Jiang, Hongkun Liu, Caixia Producer: 20200630 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2419.	Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24. [electronic resource] by Yenamandra, V K van den Akker, P C Lemmink, H H Jan, S Z Diercks, G F H Vermeer, M van den Berg, M P van der Meer, P Pasmooij, A M G Sinke, R J Jonkman, M F Bolling, M C Producer: 20191113 In: The British journal of dermatology vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2420.	Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior. [electronic resource] by Kopp, Nathan D Parrish, Phoebe C R Lugo, Michael Dougherty, Joseph D Kozel, Beth A Producer: 20181211 In: Molecular genetics & genomic medicine vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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