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

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities

进一步证据表明,双等位基因NAV3变异与隐性神经发育障碍相关,该障碍伴有畸形、发育迟缓、智力障碍和行为异常。

Kakar, Naseebullah; Mascarenhas, Selinda; Ali, Asmat; Azmatullah; Ijlal Haider, Syed M; Badiger, Vaishnavi Ashok; Ghofrani, Mobina Shadman; Kruse, Nathalie; Hashmi, Sohana Nadeem; Pozojevic, Jelena; Balachandran, Saranya; Toft, Mathias; Malik, Sajid; Händler, Kristian; Fatima, Ambrin; Iqbal, Zafar; Shukla, Anju; Spielmann, Malte; Radhakrishnan, Periyasamy

Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome

利用长读长测序技术对裂手/裂足畸形综合征中双等位基因WNT10B变异进行单倍型定相

Pozojevic, Jelena; Kakar, Naseebullah; Sczakiel, Henrike L; Kruse, Nathalie; Händler, Kristian; Balachandran, Saranya; Sreenivasan, Varun; Mensah, Martin A; Spielmann, Malte

LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome

LINE1 介导的雄激素受体转录表观遗传抑制导致雄激素不敏感综合征

Jelena Pozojevic, Radhika Sivaprasad, Joshua Laß, Franziska Haarich, Joanne Trinh, Naseebullah Kakar, Kristin Schulz, Kristian Händler, Annemarie A Verrijn Stuart, Jacques C Giltay, Koen L van Gassen, Almuth Caliebe, Paul-Martin Holterhus, Malte Spielmann, Nadine C Hornig3

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

NSUN2基因中的常染色体隐性变异c.953A>C和c.97-1G>C导致智力障碍:功能丧失机制的分子动力学模拟研究

Muhammad, Nazif; Hussain, Syeda Iqra; Rehman, Zia Ur; Khan, Sher Alam; Jan, Samin; Khan, Niamatullah; Muzammal, Muhammad; Abbasi, Sumra Wajid; Kakar, Naseebullah; Rehman, Zia Ur; Khan, Muzammil Ahmad; Mirza, Muhammad Usman; Muhammad, Noor; Khan, Saadullah; Wasif, Naveed

A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family

巴基斯坦一个家族中发现UBA2基因的新型移码变异,导致手/足分裂畸形

Parveen, Asia; Tariq, Muhammad; Khan, Sher Alam; Kakar, Naseebullah; Arif, Amina; Wasif, Naveed

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

KIAA0825基因变异是常染色体隐性遗传性轴后多指畸形的致病原因。

Ullah, Irfan; Kakar, Naseebullah; Schrauwen, Isabelle; Hussain, Shabir; Chakchouk, Imen; Liaqat, Khurram; Acharya, Anushree; Wasif, Naveed; Santos-Cortez, Regie Lyn P; Khan, Saadullah; Aziz, Abdul; Lee, Kwanghyuk; Couthouis, Julien; Horn, Denise; Kragesteen, Bjørt K; Spielmann, Malte; Thiele, Holger; Nickerson, Deborah A; Bamshad, Michael J; Gitler, Aaron D; Ahmad, Jamil; Ansar, Muhammad; Borck, Guntram; Ahmad, Wasim; Leal, Suzanne M

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

沙特阿拉伯和巴基斯坦患者常染色体隐性先天性鱼鳞病的未知突变及基因型/表型相关性

Lima Cunha, Dulce; Alakloby, Omar Mohammed; Gruber, Robert; Kakar, Naseebullah; Ahmad, Jamil; Alawbathani, Salem; Plank, Roswitha; Eckl, Katja; Krabichler, Birgit; Altmüller, Janine; Nürnberg, Peter; Zschocke, Johannes; Borck, Guntram; Schmuth, Matthias; Alabdulkareem, Adnan S; Abdulaziz Alnutaifi, Kholood; Hennies, Hans Christian

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia

BMPR1B 亚型突变导致 Du Pan 端肢发育不良

Katja Stange, Julie Désir, Naseebullah Kakar, Thomas D Mueller, Birgit S Budde, Christopher T Gordon, Denise Horn, Petra Seemann, Guntram Borck0

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

多巴胺转运体缺乏症:从婴儿期到成年期的表型谱

Ng, Joanne; Zhen, Juan; Meyer, Esther; Erreger, Kevin; Li, Yan; Kakar, Naseebullah; Ahmad, Jamil; Thiele, Holger; Kubisch, Christian; Rider, Nicholas L; Morton, D Holmes; Strauss, Kevin A; Puffenberger, Erik G; D'Agnano, Daniela; Anikster, Yair; Carducci, Claudia; Hyland, Keith; Rotstein, Michael; Leuzzi, Vincenzo; Borck, Guntram; Reith, Maarten E A; Kurian, Manju A

Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe

BMPR1B 中的纯合错义和无义突变导致端体软骨发育不良型鸊鷉

Luitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, Naseebullah Kakar, Randi Koll, Christian Bassir, Jamil Ahmad, Valerie Cormier-Daire, Stefan Mundlos, Christian Kubisch, Guntram Borck, Eva Klopocki, Thomas D Mueller, Sandra C Doelken, Petra Seemann