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Kakar, Naseebullah
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Online (45)
Mediatypes
Articles (Online) (24)
OpenAccess-fulltext (21)
Sorted by: Relevance
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?
1
LINE1-mediated epigenetic repression of androgen receptor t..:
Pozojevic, Jelena
;
Sivaprasad, Radhika
;
Laß, Joshua
...
Scientific Reports. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
2
STIGMA: Single-cell tissue-specific gene prioritization usi..:
Balachandran, Saranya
;
Prada-Medina, Cesar A.
;
Mensah, Martin A.
...
The American Journal of Human Genetics. 111 (2024) 3 - p. 618 , 2024
Link:
https://doi.org/10.1016/..
?
3
STIGMA: Single-cell tissue-specific gene prioritization usi..:
Balachandran, Saranya
;
Prada-Medina, Cesar A.
;
Mensah, Martin A.
...
The American Journal of Human Genetics. 111 (2024) 2 - p. 338-349 , 2024
Link:
https://doi.org/10.1016/..
?
4
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes..:
Figueroa, Karla P.
;
Gross, Caspar
;
Buena-Atienza, Elena
...
Nature Genetics. 56 (2024) 6 - p. 1080-1089 , 2024
Link:
https://doi.org/10.1038/..
?
5
Multi‐gene panel sequencing in highly consanguineous famili..:
Kakar, Naseebullah
;
Rehman, Fazal ur
;
Kaur, Ramandeep
...
Clinical Genetics. 106 (2024) 1 - p. 47-55 , 2024
Link:
https://doi.org/10.1111/..
?
6
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN..:
Muhammad, Nazif
;
Hussain, Syeda Iqra
;
Rehman, Zia Ur
...
Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
7
A novel frameshift variant in UBA2 causing split-hand/foot ..:
Parveen, Asia
;
Tariq, Muhammad
;
Khan, Sher Alam
...
Human Genome Variation. 10 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
8
Variants in KIAA0825 underlie autosomal recessive postaxial..:
Ullah, Irfan
;
Kakar, Naseebullah
;
Schrauwen, Isabelle
...
Human Genetics. 138 (2019) 6 - p. 593-600 , 2019
Link:
https://doi.org/10.1007/..
?
9
Unknown mutations and genotype/phenotype correlations of au..:
Lima Cunha, Dulce
;
Alakloby, Omar Mohammed
;
Gruber, Robert
...
Molecular Genetics & Genomic Medicine. 7 (2019) 3 - p. , 2019
Link:
https://doi.org/10.1002/..
?
10
Expanding the phenotype associated with biallelic WDR60 mut..:
Kakar, Naseebullah
;
Horn, Denise
;
Decker, Eva
...
American Journal of Medical Genetics Part A. 176 (2017) 2 - p. 438-442 , 2017
Link:
https://doi.org/10.1002/..
?
11
Mutations of PTPN23 in developmental and epileptic encephal..:
Sowada, Nadine
;
Hashem, Mais Omar
;
Yilmaz, Rüstem
...
Human Genetics. 136 (2017) 11-12 - p. 1455-1461 , 2017
Link:
https://doi.org/10.1007/..
?
12
Exome sequencing and CRISPR/Cas genome editing identify mut..:
Spielmann, Malte
;
Kakar, Naseebullah
;
Tayebi, Naeimeh
...
Genome Research. 26 (2016) 2 - p. 183-191 , 2016
Link:
https://doi.org/10.1101/..
?
13
A hypomorphic BMPR1B mutation causes du Pan acromesomelic d..:
Stange, Katja
;
Désir, Julie
;
Kakar, Naseebullah
...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015
Link:
https://doi.org/10.1186/..
?
14
STIL mutation causes autosomal recessive microcephalic loba..:
Kakar, Naseebullah
;
Ahmad, Jamil
;
Morris-Rosendahl, Deborah J.
...
Human Genetics. 134 (2014) 1 - p. 45-51 , 2014
Link:
https://doi.org/10.1007/..
?
15
Dopamine transporter deficiency syndrome: phenotypic spectr..:
Ng, Joanne
;
Zhen, Juan
;
Meyer, Esther
...
Brain. 137 (2014) 4 - p. 1107-1119 , 2014
Link:
https://doi.org/10.1093/..
1-15