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Author/Creator Kakar, Naseebullah

1. De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say‐Barber/Biesecker/Young‐Simpson syndrome1. Issue 4 (22nd February 2013)

Authors:
Szakszon, Katalin; Salpietro, Carmelo; Kakar, Naseebullah; Knegt, Alida C.; Oláh, Éva; Dallapiccola, Bruno; Borck, Guntram
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 4(2013:Apr.)
Page Start:
884
Record Type:
Journal Article
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3. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. Issue 2 (22nd December 2017)

Authors:
Kakar, Naseebullah; Horn, Denise; Decker, Eva; Sowada, Nadine; Kubisch, Christian; Ahmad, Jamil; Borck, Guntram; Bergmann, Carsten
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 2(2018)
Page Start:
438
Record Type:
Journal Article
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4. Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. Issue 3 (18th May 2016)

Authors:
Daud, Shakeela; Kakar, Naseebullah; Goebel, Ingrid; Hashmi, Abu Saeed; Yaqub, Tahir; Nürnberg, Gudrun; Nürnberg, Peter; Morris-Rosendahl, Deborah J.; Wasim, Muhammad; Volk, Alexander E.; Kubisch, Christian; Ahmad, Jamil; Borck, Guntram
Journal:
Amyotrophic lateral sclerosis and frontotemporal degeneration
Issue:
Volume 17:Issue 3/4(2016)
Page Start:
260
Record Type:
Journal Article
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5. Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Issue 3 (1st January 2019)

Authors:
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 Alnutai...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 3(2019)
Page Start:
n/a
Record Type:
Journal Article
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