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El‐Shanti, Hatem
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1

Biallelic loss of function variants in PPP1R21 cause a neur..:

Rehman, Atteeq U ; Najafi, Maryam ; Kambouris, Marios...
https://freidok.uni-freiburg.de/data/149448.  , 2019
Link: https://freidok.uni-frei..
 
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2

Congenital glucose‐galactose malabsorption: A case report w..:

Al‐lawama, Manar ; Albaramki, Jumana ; Altamimi, Mutaz.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333054/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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3

Biallelic loss of function variants in PPP1R21 cause a neur..:

Rehman, Atteeq U ; Najafi, Maryam ; Kambouris, Marios...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370506/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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4

A chromosomal microdeletion of 15q in a female patient with..:

Ahram, Dina F ; Al‐Sarraj, Yasser ; Taha, Rowaida Z...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457985/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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5

Mosaic partial pericentromeric trisomy 8 and maternal unipa..:

Ahram, Dina F ; Stambouli, Danae ; Syrogianni, Aleksandra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5134130/.  , 2016
Link: http://www.ncbi.nlm.nih...
 
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6

Biallelic SCN10A mutations in neuromuscular disease and epi..:

Kambouris, Marios ; Thevenon, Julien ; Soldatos, Ariane...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5221474/.  , 2016
Link: http://www.ncbi.nlm.nih...
 
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7

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndr..:

Moon Ley Tung ; Bharatendu Chandra ; Jaclyn Kotlarek...
https://www.mdpi.com/2073-4425/13/9/1649.  , 2022
Link: https://doi.org/10.3390/..
 
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8

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndr..:

Moon Ley Tung ; Bharatendu Chandra ; Jaclyn Kotlarek...
Human Genomics and Genetic Diseases.  , 2022
Link: https://doi.org/10.3390/..
 
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9

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndr..:

Tung, Moon Ley ; Chandra, Bharatendu ; Kotlarek, Jaclyn...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498434/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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10

Majeed Syndrome: A Review of the Clinical, Genetic and Immu..:

Polly J. Ferguson ; Hatem El-Shanti
https://www.mdpi.com/2218-273X/11/3/367.  , 2021
Link: https://doi.org/10.3390/..
 
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11

Family-Based Genome-Wide Association Study of Autism Spectr..:

Yasser Al-Sarraj ; Eman Al-Dous ; Rowaida Z. Taha...
https://www.mdpi.com/2073-4425/12/5/761.  , 2021
Link: https://doi.org/10.3390/..
 
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12

Majeed Syndrome: A Review of the Clinical, Genetic and Immu..:

Polly J. Ferguson ; Hatem El-Shanti
Biological Factors.  , 2021
Link: https://doi.org/10.3390/..
 
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13

Family-Based Genome-Wide Association Study of Autism Spectr..:

Yasser Al-Sarraj ; Eman Al-Dous ; Rowaida Z. Taha...
Human Genomics and Genetic Diseases.  , 2021
Link: https://doi.org/10.3390/..
 
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14

Family-Based Genome-Wide Association Study of Autism Spectr..:

Al-Sarraj, Yasser ; Al-Dous, Eman ; Taha, Rowaida Z...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8157263/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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15

A Novel Autosomal Recessive, Progeroid Syndrome with Short ..:

Garg, Abhimanyu ; El-Shanti, Hatem ; Xing, Chao...
Garg A, El-Shanti H, Xing C, Zhou Z, Abujbara M, Al-Rashed K, El-Khateeb M, Ajlouni K, Agarwal AK. Data from: A novel autosomal recessive, progeroid syndrome with short stature, mandibular hypoplasia, osteoporosis and short eyebrows due to a homozygous mutation in PRRT3. UT Southwestern Institutional Repository 2019. Deposited 18 September 2019. https://hdl.handle.net/2152.5/7263.  , 2019
Link: https://hdl.handle.net/2..
 
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