Artykuły w czasopismach na temat „Probandho”
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Cotter, Philip D., Alison May, Liping Li, A. I. Al-Sabah, Edward J. Fitzsimons, Mario Cazzola i David F. Bishop. "Four New Mutations in the Erythroid-Specific 5-Aminolevulinate Synthase (ALAS2) Gene Causing X-Linked Sideroblastic Anemia: Increased Pyridoxine Responsiveness After Removal of Iron Overload by Phlebotomy and Coinheritance of Hereditary Hemochromatosis". Blood 93, nr 5 (1.03.1999): 1757–69. http://dx.doi.org/10.1182/blood.v93.5.1757.
Pełny tekst źródłaCotter, Philip D., Alison May, Liping Li, A. I. Al-Sabah, Edward J. Fitzsimons, Mario Cazzola i David F. Bishop. "Four New Mutations in the Erythroid-Specific 5-Aminolevulinate Synthase (ALAS2) Gene Causing X-Linked Sideroblastic Anemia: Increased Pyridoxine Responsiveness After Removal of Iron Overload by Phlebotomy and Coinheritance of Hereditary Hemochromatosis". Blood 93, nr 5 (1.03.1999): 1757–69. http://dx.doi.org/10.1182/blood.v93.5.1757.405a12_1757_1769.
Pełny tekst źródłaPujol, Pascal, Nathalie Alegre, Pierre vande Perre, Yves-Jean Bignon, Jean Chiesa, Marie Christine Picot, Virginie Galibert, Helena Bertet i Carole Corsini. "Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing in families with BRCA1/2 or MMR gene mutations." Journal of Clinical Oncology 37, nr 15_suppl (20.05.2019): e13151-e13151. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13151.
Pełny tekst źródłaFisher, S. G., P. Mumby i S. Kohli. "Effect of familial breast cancer outcomes on health behaviors of relatives". Journal of Clinical Oncology 25, nr 18_suppl (20.06.2007): 1521. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.1521.
Pełny tekst źródłaDe Paiva, Isaias Soares, Gleyson da Cruz Pinto, Fellipe Carlos Correa Batista i Caroline Graça De Paiva. "Mucopolissacaridose IIIB – relato de três casos e estimativa da incidência no município de Teresópolis - RJ". Brazilian Journal of Health Review 6, nr 4 (29.08.2023): 19091–106. http://dx.doi.org/10.34119/bjhrv6n4-399.
Pełny tekst źródłaPedrazzani, Carla, Monica Aceti, Reka Schweighoffer, Andrea Kaiser-Grolimund, Nicole Bürki, Pierre O. Chappuis, Rossella Graffeo i in. "The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband–Provider and Proband–Family Communication in Hereditary Breast and Ovarian Cancer". Journal of Personalized Medicine 12, nr 8 (29.07.2022): 1249. http://dx.doi.org/10.3390/jpm12081249.
Pełny tekst źródłaMiller, Jessica E., Kim W. Carter, Nicholas de Klerk i David P. Burgner. "The familial risk of infection-related hospitalization in children: A population-based sibling study". PLOS ONE 16, nr 4 (28.04.2021): e0250181. http://dx.doi.org/10.1371/journal.pone.0250181.
Pełny tekst źródłaScheftner, William A., Michael A. Young, Jean Endicott, William Coryell, Louis Fogg, David C. Clark i Jan Fawcett. "Family History and Five-year Suicide Risk". British Journal of Psychiatry 153, nr 6 (grudzień 1988): 805–9. http://dx.doi.org/10.1192/bjp.153.6.805.
Pełny tekst źródłaRice, Mabel L., Karla R. Haney i Kenneth Wexler. "Family Histories of Children With SLI Who Show Extended Optional Infinitives". Journal of Speech, Language, and Hearing Research 41, nr 2 (kwiecień 1998): 419–32. http://dx.doi.org/10.1044/jslhr.4102.419.
Pełny tekst źródłaZhuang, Jianlong, Yu Zheng, Yuanbai Wang, Qianmei Zhuang, Yuying Jiang, Qingyue Xie, Shuhong Zeng i Jianxing Zeng. "Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families". Journal of Clinical Pathology 73, nr 9 (27.02.2020): 593–96. http://dx.doi.org/10.1136/jclinpath-2020-206426.
Pełny tekst źródłaMeschia, James F., Robert D. Brown, Thomas G. Brott, John Hardy, Elizabeth J. Atkinson i Peter C. O’Brien. "Ischemic Stroke Mechanism and Likelihood of Having a Positive Family History of Stroke". Stroke 32, suppl_1 (styczeń 2001): 361. http://dx.doi.org/10.1161/str.32.suppl_1.361-b.
Pełny tekst źródłaSusanti, Reka, Bhakti Karyadi, Deni Parlindungan i Aceng Ruyani. "Pengaruh Minuman Segar Buah Etlingera hemisphaerica (MSBE) terhadap Kadar Asam Urat dan Kolesterol Warga Kabupaten Lebong dan Kepahiang". Bioscientist : Jurnal Ilmiah Biologi 11, nr 1 (30.06.2023): 279. http://dx.doi.org/10.33394/bioscientist.v11i1.7303.
Pełny tekst źródłaGrigoroiu-Serbanescu, M., i R. C. Elston. "Incongruent psychosis in bipolar i disorder: heritability and importance for genetic association studies". European Psychiatry 26, S2 (marzec 2011): 213. http://dx.doi.org/10.1016/s0924-9338(11)71923-x.
Pełny tekst źródłaHlavatá, Lucia, Ľubica Ďuďáková, Jana Moravíková, Anna Zobanová, Bohdan Kousal i Petra Lišková. "Molecular Genetic Cause of Achromatopsia in Two Patients of Czech Origin". Czech and Slovak Ophthalmology 75, nr 5 (21.10.2019): 272–76. http://dx.doi.org/10.31348/2019/5/5.
Pełny tekst źródłaFontaine, Robert, Ping Wang i Charles Glueck. "Interaction of Heritable and Estrogen-induced Thrombophilia: Possible Etiologies for Ischemic Optic Neuropathy and Ischemic Stroke". Thrombosis and Haemostasis 85, nr 02 (2001): 256–59. http://dx.doi.org/10.1055/s-0037-1615698.
Pełny tekst źródłaXian, Xiaoying, Lin Liao, Wei Shu, Hongtao Li, Yuanyuan Qin, Jie Yan, Jianming Luo i Fa-Quan Lin. "A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia". Cellular Physiology and Biochemistry 47, nr 5 (2018): 1989–97. http://dx.doi.org/10.1159/000491467.
Pełny tekst źródłaVaillant, George E., George E. Vaillant, Maren Batalden, John Orav, Diane Roston i James E. Barrett. "Evidence for a Possibly X-Linked Trait Related to Affective Illness". Australian & New Zealand Journal of Psychiatry 39, nr 8 (sierpień 2005): 730–35. http://dx.doi.org/10.1080/j.1440-1614.2005.01658.x.
Pełny tekst źródłaSmith, Maria, Kristina Hwang, Julia Anne Smith i Bhavana Pothuri. "Evaluation of proband adherence and satisfaction with a prospective cascade testing protocol." Journal of Clinical Oncology 39, nr 15_suppl (20.05.2021): 10593. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.10593.
Pełny tekst źródłaFYER, ABBY J., JOSHUA D. LIPSITZ, SALVATORE MANNUZZA, BONNIE ARONOWITZ i TIMOTHY F. CHAPMAN. "A direct interview family study of obsessive–compulsive disorder. I". Psychological Medicine 35, nr 11 (28.07.2005): 1611–21. http://dx.doi.org/10.1017/s0033291705005441.
Pełny tekst źródłaKendler, Kenneth S. "Is seeking treatment for depression predicted by a history of depression in relatives? Implications for family studies of affective disorder". Psychological Medicine 25, nr 4 (lipiec 1995): 807–14. http://dx.doi.org/10.1017/s0033291700035054.
Pełny tekst źródłaSham, Pak Chung, Peter Jones, Ailsa Russell, Karyna Gilvarry, Paul Bebbington, Shôn Lewis, Brian Toone i Robin Murray. "Age at Onset, Sex, and Familial Psychiatric Morbidity in Schizophrenia". British Journal of Psychiatry 165, nr 4 (październik 1994): 466–73. http://dx.doi.org/10.1192/bjp.165.4.466.
Pełny tekst źródłaPulver, Ann E., Kung-Yee Liang, C. Hendricks Brown, Paula Wolyniec, John McGrath, Lawrence Adler, Doreen Tam, William T. Carpenter i Barton Childs. "Risk Factors in Schizophrenia". British Journal of Psychiatry 160, nr 1 (styczeń 1992): 65–71. http://dx.doi.org/10.1192/bjp.160.1.65.
Pełny tekst źródłaZhang, Jian-hui, Dan-dan Ruan, Ya-nan Hu, Xing-lin Ruan, Yao-bin Zhu, Xiao Yang, Jia-bin Wu, Xin-fu Lin, Jie-wei Luo i Fa-qiang Tang. "Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto’s Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations". BioMed Research International 2021 (10.05.2021): 1–12. http://dx.doi.org/10.1155/2021/9973161.
Pełny tekst źródłaNorero, Enrique, M. Alejandra Alarcon, Christopher Hakkaart, Tomas de Mayo, Cecilia Mellado, Marcelo Garrido, Gloria Aguayo i in. "Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer". International Journal of Molecular Sciences 20, nr 20 (9.10.2019): 4980. http://dx.doi.org/10.3390/ijms20204980.
Pełny tekst źródłaKinnamon, Daniel D., Elizabeth Jordan, Garrie J. Haas, Mark Hofmeyer, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris i in. "Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial". Circulation 147, nr 17 (25.04.2023): 1281–90. http://dx.doi.org/10.1161/circulationaha.122.062507.
Pełny tekst źródłaAnanth, Cande, Kathleen Jablonski, Leslie Myatt, James Roberts, Alan Tita, Kenneth Leveno, Uma Reddy i in. "Risk of Ischemic Placental Disease in Relation to Family History of Preeclampsia". American Journal of Perinatology 36, nr 06 (3.10.2018): 624–31. http://dx.doi.org/10.1055/s-0038-1672177.
Pełny tekst źródłaSzulik, Marta W., Miguel Reyes-Múgica, Daniel F. Marker, Ana M. Gomez, Matthew D. Zinn, Leslie K. Walsh, Juan Pablo Ochoa, Sarah Franklin i Lina Ghaloul-Gonzalez. "Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy". Genes 14, nr 3 (6.03.2023): 659. http://dx.doi.org/10.3390/genes14030659.
Pełny tekst źródłaShi, Xiao, Hao Geng, Hui Yu, Xiaolong Hu, Guanxiong Wang, Jin Yang i Hui Zhao. "Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome". BioMed Research International 2022 (26.06.2022): 1–8. http://dx.doi.org/10.1155/2022/7130555.
Pełny tekst źródłaLi, Qian, Yongpeng Zhang, Liyun Jia i Xiaoyan Peng. "A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome". Chinese Medical Journal 127, nr 24 (20.12.2014): 4190–96. http://dx.doi.org/10.3760/cma.j.issn.0366-6999.20141359.
Pełny tekst źródłaQuee, P. J., B. Z. Alizadeh, A. Aleman i E. R. van den Heuvel. "Cognitive subtypes in non-affected siblings of schizophrenia patients: characteristics and profile congruency with affected family members". Psychological Medicine 44, nr 2 (9.05.2013): 395–405. http://dx.doi.org/10.1017/s0033291713000809.
Pełny tekst źródłaShigekiyo, Toshio, Hidemasa Yoshida, Kazuya Matsumoto, Hiroyuki Azuma, Sadao Wakabayashi, Shiro Saito, Kazuo Fujikawa i Takehiko Koide. "HRG Tokushima: Molecular and Cellular Characterization of Histidine-Rich Glycoprotein (HRG) Deficiency". Blood 91, nr 1 (1.01.1998): 128–33. http://dx.doi.org/10.1182/blood.v91.1.128.
Pełny tekst źródłaShigekiyo, Toshio, Hidemasa Yoshida, Kazuya Matsumoto, Hiroyuki Azuma, Sadao Wakabayashi, Shiro Saito, Kazuo Fujikawa i Takehiko Koide. "HRG Tokushima: Molecular and Cellular Characterization of Histidine-Rich Glycoprotein (HRG) Deficiency". Blood 91, nr 1 (1.01.1998): 128–33. http://dx.doi.org/10.1182/blood.v91.1.128.128_128_133.
Pełny tekst źródłaVančová, Dominika, Ľudmila Jančoková, Júlia Palovičová i Pavol Pivovarniček. "Identifikácia chronotypov vysokoškolských študentiek". Studia sportiva 7, nr 2 (2.12.2013): 79–84. http://dx.doi.org/10.5817/sts2013-2-9.
Pełny tekst źródłaRussell, MB, S. Østergaard, L. Bendtsen i J. Olesen. "Familial Occurrence of Chronic Tension-Type Headache". Cephalalgia 19, nr 4 (maj 1999): 207–10. http://dx.doi.org/10.1046/j.1468-2982.1999.019004207.x.
Pełny tekst źródłaNEWMAN, STEPHEN C., i ROGER C. BLAND. "A population-based family study of DSM-III generalized anxiety disorder". Psychological Medicine 36, nr 9 (15.05.2006): 1275–81. http://dx.doi.org/10.1017/s0033291706007732.
Pełny tekst źródłaCardot Bauters, Catherine, Emmanuelle Leteurtre, Bruno Carnaille, Christine Do Cao, Stéphanie Espiard, Malo Penven, Evelyne Destailleur i in. "Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B". Endocrine Connections 9, nr 10 (październik 2020): 1042–50. http://dx.doi.org/10.1530/ec-20-0460.
Pełny tekst źródłaIreland, H., E. Thompson i D. A. Lane. "Gene Mutations in 21 Unrelated Cases of Phenotypic Heterozygous Protein C Deficiency and Thrombosis". Thrombosis and Haemostasis 76, nr 06 (1996): 0867–73. http://dx.doi.org/10.1055/s-0038-1650677.
Pełny tekst źródłaVachon, Celine M., Robert Kyle, Terry Therneau, Dirk R. Larson, Colin Colby, Barbara J. Foreman, Angela Dispenzieri, Shaji Kumar, Jerry Katzmann i S. Vincent Rajkumar. "Increased Risk of Monoclonal Gammopathy in First-Degree Relatives of Patients with Multiple Myeloma or Monoclonal Gammopathy of Undetermined Significance." Blood 112, nr 11 (16.11.2008): 1672. http://dx.doi.org/10.1182/blood.v112.11.1672.1672.
Pełny tekst źródłaPandelache, Alison, David Francis, Ralph Oertel, Rebecca Dickson, Rani Sachdev, Ling Ling, Dinusha Gamage i David E. Godler. "Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX". Genes 12, nr 6 (24.05.2021): 798. http://dx.doi.org/10.3390/genes12060798.
Pełny tekst źródłaGraziani, Ludovico, Stefania Zampatti, Miriam Lucia Carriero, Chiara Minotti, Cristina Peconi, Mario Bengala, Emiliano Giardina i Giuseppe Novelli. "Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report". Genes 14, nr 8 (6.08.2023): 1589. http://dx.doi.org/10.3390/genes14081589.
Pełny tekst źródłaVähäsalo, Paula, Mikael Knip, Jukka Karjalainen, Eva Tuomilehto-Wolf, Raisa Lounamaa, Hans K. Åkerblom i _. _. "Islet cell-specific autoantibodies in children with insulin-dependent diabetes mellitus and their siblings at clinical manifestation of the disease". European Journal of Endocrinology 135, nr 6 (grudzień 1996): 689–95. http://dx.doi.org/10.1530/eje.0.1350689.
Pełny tekst źródłaLui, S., L. Yao, Y. Xiao, S. K. Keedy, J. L. Reilly, R. S. Keefe, C. A. Tamminga i in. "Resting-state brain function in schizophrenia and psychotic bipolar probands and their first-degree relatives". Psychological Medicine 45, nr 1 (20.05.2014): 97–108. http://dx.doi.org/10.1017/s003329171400110x.
Pełny tekst źródłaJacobs, M. J., S. Roesch, S. A. Wonderlich, R. Crosby, L. Thornton, D. E. Wilfley, W. H. Berrettini i in. "Anorexia nervosa trios: behavioral profiles of individuals with anorexia nervosa and their parents". Psychological Medicine 39, nr 3 (26.06.2008): 451–61. http://dx.doi.org/10.1017/s0033291708003826.
Pełny tekst źródłaCapellini, Simone Aparecida, Niura Aparecida de Mouro Ribeiro Padula, Lara Cristina Antunes dos Santos, Maria Dalva Lourenceti, Erika Hasse Carrenho i Lucilene Arilho Ribeiro. "Desempenho em consciência fonológica, memória operacional, leitura e escrita na dislexia familial". Pró-Fono Revista de Atualização Científica 19, nr 4 (grudzień 2007): 374–80. http://dx.doi.org/10.1590/s0104-56872007000400009.
Pełny tekst źródłaRadecki Breitkopf, Carmen, Susan M. Wolf, Kari G. Chaffee, Marguerite E. Robinson, Noralane M. Lindor, Deborah R. Gordon, Barbara A. Koenig i Gloria M. Petersen. "Attitudes Toward Return of Genetic Research Results to Relatives, Including After Death: Comparison of Cancer Probands, Blood Relatives, and Spouse/Partners". Journal of Empirical Research on Human Research Ethics 13, nr 3 (27.04.2018): 295–304. http://dx.doi.org/10.1177/1556264618769165.
Pełny tekst źródłaGoldstein, Jill M., Stephen V. Faraone, Wei J. Chen i Ming T. Tsuang. "The Role of Gender in Understanding the Familial Transmission of Schizoaffective Disorder". British Journal of Psychiatry 163, nr 6 (grudzień 1993): 763–68. http://dx.doi.org/10.1192/bjp.163.6.763.
Pełny tekst źródłaBonaventure, J., L. Cohen-Solal, P. Ritvaniemi, L. Van Maldergem, N. Kadhom, A. L. Delezoide, P. Maroteaux, D. J. Prockop i L. Ala-Kokko. "Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships". Biochemical Journal 307, nr 3 (1.05.1995): 823–30. http://dx.doi.org/10.1042/bj3070823.
Pełny tekst źródłaGrant, Robert C., Spring Holter, Ayelet Borgida, Melania Pintile, Mohammad R. Akbari, George Zogopoulos i Steven Gallinger. "Comparison of guidelines, BRCAPRO, and genetic counsellors estimates for the identification of BRCA1 and BRCA2 mutations in pancreatic cancer." Journal of Clinical Oncology 35, nr 15_suppl (20.05.2017): e15784-e15784. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.e15784.
Pełny tekst źródłaGriffin, Tomás P., Caroline M. Joyce, Sumaya Alkanderi, Liam M. Blake, Derek T. O’Keeffe, Delia Bogdanet, Md Nahidul Islam i in. "Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes". Endocrine Connections 9, nr 6 (czerwiec 2020): 530–41. http://dx.doi.org/10.1530/ec-20-0150.
Pełny tekst źródłaMoniruzzaman, Mohammad, Pallab Kumar Das, Mhabuba Akter, Jasmin Nur, Zeenat Farzana Rahman, Md Sohrab Alam, Mansura Khan i M. Sawkat Hasan. "Down’s Syndrome Presented with Transmission of Maternal Translocation of 2; 21 Chromosomes. A Case Report". Bangladesh Medical Research Council Bulletin 49, nr 2 (1.08.2023): 143–47. http://dx.doi.org/10.3329/bmrcb.v49i2.62712.
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