日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The Impact of Prenatal Alcohol Exposure on the Autonomic Nervous System and Cardiovascular System in Rats in a Sex-Specific Manner

产前酒精暴露对大鼠自主神经系统和心血管系统的影响存在性别差异

Jurczyk, Michał; Król, Magdalena; Midro, Aleksandra; Dyląg, Katarzyna; Kurnik-Łucka, Magdalena; Skowron, Kamil; Gil, Krzysztof

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 - Case Study

MAP2K1基因致病变异导致3型心面皮肤综合征(CFC 3)男孩的语音、听力、口腔和言语问题——病例研究

Kosztyła-Hojna, Bożena; Borys, Jan; Zdrojkowski, Maciej; Duchnowska, Emilia; Kraszewska, Anna; Wasilewska, Daria; Zweier, Christiane; Midro, Alina Teresa

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

BPTF相关神经发育障碍的表型扩展,表现为面部畸形和远端肢体异常

Glinton, Kevin E; Hurst, Anna C E; Bowling, Kevin M; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, Yline; Furlan, Margherita; Gardella, Elena; Møller, Rikke Steensbjerre; van de Beek, Irma; Zuurbier, Linda; Lakeman, Phillis; Bayat, Allan; Martinez, Julian; Signer, Rebecca; Torring, Pernille M; Engelund, Morten Buch; Gripp, Karen W; Amlie-Wolf, Louise; Henderson, Lindsay B; Midro, Alina T; Tarasów, Eugeniusz; Stasiewicz-Jarocka, Beata; Moskal-Jasinska, Diana; Vos, Paul; Boschann, Felix; Stoltenburg, Corinna; Puk, Oliver; Mero, Inger-Lise; Lossius, Kristine; Mignot, Cyril; Keren, Boris; Acosta Guio, Johanna C; Briceño, Ignacio; Gomez, Alberto; Yang, Yaping; Stankiewicz, Pawel

Chromosome (re)positioning in spermatozoa of fathers and sons - carriers of reciprocal chromosome translocation (RCT)

父子精子中的染色体(重新)定位——相互染色体易位(RCT)携带者

Olszewska, Marta; Wiland, Ewa; Huleyuk, Nataliya; Fraczek, Monika; Midro, Alina T; Zastavna, Danuta; Kurpisz, Maciej

Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations

携带独特 t(4;19)(p15.32;p13.3) 易位的个体的不平衡后代存活率有限:一项多代研究

Šumanović-Glamuzina, Darinka; Lozić, Bernarda; Iwanowski, Piotr S; Zemunik, Tatijana; Bilinovac, Zeljka; Stasiewicz-Jarocka, Beata; Panasiuk, Barbara; Midro, Alina T

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

ALG1-CDG:39例未报道患者的临床和分子特征分析

Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Van Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez-Valle, Amarilis; Vilain, Eric; Vøllo, Arve; Waechter, Charles J; Wang, Raymond Y; Wolfe, Lynne A; Wong, Derek A; Wood, Tim; Yang, Amy C; Matthijs, Gert; Freeze, Hudson H

MTRNR2L12: A Candidate Blood Marker of Early Alzheimer's Disease-Like Dementia in Adults with Down Syndrome

MTRNR2L12:唐氏综合征成人早期阿尔茨海默病样痴呆的候选血液标志物

Bik-Multanowski, Miroslaw; Pietrzyk, Jacek J; Midro, Alina

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures

一名女性患有复杂的平衡染色体易位 t(2;5;13)(p21;p15;q22),且有四次生育失败史。

Lazarczyk, Ewelina; Drozniewska, Malgorzata; Pasinska, Magdalena; Stasiewicz-Jarocka, Beata; Midro, Alina T; Haus, Olga

Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male

不育男性新生易位 dic(9;13)(p11.2;p12) 的细胞遗传学和分子分析

Ewa Wiland, Marta Olszewska, Andrew Georgiadis, Nataliya Huleyuk, Barbara Panasiuk, Danuta Zastavna, Svetlana A Yatsenko, Piotr Jedrzejczak, Alina T Midro, Alexander N Yatsenko, Maciej Kurpisz

DYSCERNE: a European Network of Centres of Expertise for Dysmorphology

DYSCERNE:欧洲畸形学专业中心网络

Schneider, Hauke; Lingesleben, Alexandra; Vogel, Hans-Peter; Garuti, Rita; Calandra, Sebastiano; Koutouzov, Sophie; Palau, Francesc; Wild, Claudia; Heemstra, Harald; Barton, David; Aymé, Ségolène; Mehta, Anil; McCormick, Jonathan; Macek, Milan Jr; Rath, Ana; Aymé, Ségolène; Bellet, Bertrand; Adjibi, Yolande; Micallef, Joëlle; Blin, Olivier; Auld, Joanne; Rose, Michael; Seyedsadjadi, Reza; Solberg, Olga; Miller, Jeanette Ullmann; Heivang, Synne; Bjerke, Mads; Jensen, Lene; Holm, Birthe Byskov; Midro, Alina T; Haus, Olga; Kobel-Buys, Krystyna; Wierzba, Jolanta; Zajączek, Stanisław; Deybach, Jean-Charles; Parker, Samantha; Badmiton, Mike; Sandberg, Sverre; Myrvang, Vigdis Hegna; Thorsen, Kirsten; Searle, Beverly; Middlemiss, Prisca; Wynn, Sarah; Hulten, Maj; Zimmermann, Martine; Taruscio, Domenica; Vittozzi, Luciano; Griffiths, Pam; Strong, Kate; Gardner, Sara; Day, Ruth; Harrison, Caroline; Bronwyn, Kerr; Metcalfe, Kay; Brunner, Han; Donnai, Dian; Dallapiccola, Bruno; Devriendt, Koenraad; Krajewska-Walasek, Malgorzata; Philip, Nicole; Clayton-Smith, Jill; Trocello, Jean-Marc; Zeidler, Cornelia; Pracht, Gusal; Germeshausen, Manuela; Welte, Karl; Wierzba, Yolanta; Jaglowska, Joanna; Suszka, Emilia G; Bernatowska, Ewa; Pac, Malgorzata; Marynowicz, Dorota; Hivert, Virginie; Martin, Natalia; Hanauer, Marc; Aymé, Ségolène; Vittozzi, Luciano; Hoffmann, Georg F; Cornel, Martina; Loeber, Gerard; Armayones, Manuel; Hernández-Encuentra, Eulàlia; Gómez-Zúñiga, Beni; Guillamon, Noemí; Ontiveros, Gerardo; Bosque, Ana; Nafría, Begonya; Kvlividze, Oleg; Chigladze, Tamar; Tvaliashvili, George; Galdava, George; Mavris, Maria; Bignami, Fabrizia; Hernberg-Ståhl, Elizabeth; Smit, Cees; Goossens, Greetje; von Gizycki, Rainald; Nourissier, Christel; Greek-Winald, Christina; Gustafsson, Birgitta; Högvik, Lisbeth; Moliner, Antoni Montserrat; Aymé, Ségolène; Sykut-Cegielska, Jolanta; Van der Zeijden, Albert; Huizer, Jolanda; Pogany, Gabor; Facchin, Paola; Dan, Dorica; Kole, Anna A; le Cam, Yann; Aksnes, Stein Are; Gabreëls, Fons JM; Huizer, Jolanda S; Le Henanff, Guillaume; Tchernia, Gil; van Betuw, Annet; Stamsnijder, Marjet; Aymé, Ségolène; Rath, Ana; Bellet, Bertrand; Czerniawska, Marta; Modell, Fred; Jovanovic, Mariana; Dequeker, Els; Desmet, Lieve; Morris, Michael; Cassiman, Jean-Jacques; Aymé, Ségolène; Martin, Natalia; Doulet, Nicolas; Hivert, Virginie; Aymé, Ségolène; Mehta, Anil; Mehta, Gita; Macek, Milan; Mikos, Marcin; Krzyzanowski, Mikolaj; Cichy, Wojciech; Wojtowicz, Pawel; Sandurska, Anna; McCormack, Pauline; Wallentin, Ute; Suchert, Steffen; Hennekam, Raoul CM; Pohla-Gubo, Gabriela; Bushby, Kate; Chrzanowska, Krystyna; Clayton-Smith, Jill; Day, Ruth; Griffiths, Pamela