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Author/Creator Alawbathani, Salem

1. A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features. Issue 5 (13th March 2022)

Authors:
Salah, Azza; Almannai, Mohammed; Al Ojaimi, Mode; Radefeldt, Mandy; Gulati, Nishtha; Iqbal, Maria; Alawbathani, Salem; Al‐Ali, Ruslan; Beetz, Christian; El‐Hattab, Ayman W.
Journal:
Clinical genetics
Issue:
Volume 101:Issue 5/6(2022)
Page Start:
565
Record Type:
Journal Article
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3. ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype. Issue 1 (19th May 2020)

Authors:
Massadeh, Salam; Alhashem, Amal; van de Laar, Ingrid M.B.H.; Alhabshan, Fahad; Ordonez, Natalia; Alawbathani, Salem; Khan, Suliman; Kabbani, Mohamed S.; Chaikhouni, Farah; Sheereen, Atia; Almohammed, Iman; Alghamdi, Bader; Frohn‐Mulder, Ingrid; Ahmad, Salim; Beetz, Christian; Bauer, Peter; Wessel...
Journal:
Clinical genetics
Issue:
Volume 98:Issue 1(2020)
Page Start:
56
Record Type:
Journal Article
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4. Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities. Issue 2 (6th November 2021)

Authors:
Alawbathani, Salem; Westenberger, Ana; Ordonez‐Herrera, Natalia; Al‐Hilali, Mariam; Al Hebby, Homoud; Alabbas, Fahad; Alhashem, Amal M.; Elyamany, Ghaleb; Megarbane, André; Kose, Melis; Alhashmi, Nadia; Al Sukaiti, Nashat; Al‐Raqad, Mohammed; Al‐Tawalbeh, Samah; Abu Adas Blanco, Omar; Alkhattabi,...
Journal:
Clinical genetics
Issue:
Volume 101:Issue 2(2022)
Page Start:
247
Record Type:
Journal Article
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5. Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations. Issue 2 (5th November 2020)

Authors:
Sprute, Rosanne; Jergas, Hannah; Ölmez, Akgün; Alawbathani, Salem; Karasoy, Hatice; Dafsari, Hormos Salimi; Becker, Kerstin; Daimagüler, Hülya‐Sevcan; Nürnberg, Peter; Muntoni, Francesco; Topaloglu, Haluk; Uyanik, Gökhan; Cirak, Sebahattin
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 2(2021)
Page Start:
344
Record Type:
Journal Article
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6. Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies. Issue 9 (25th July 2018)

Authors:
Karakaya, Mert; Storbeck, Markus; Strathmann, Eike A.; Delle Vedove, Andrea; Hölker, Irmgard; Altmueller, Janine; Naghiyeva, Leyla; Schmitz‐Steinkrüger, Lea; Vezyroglou, Katharina; Motameny, Susanne; Alawbathani, Salem; Thiele, Holger; Polat, Ayse Ipek; Okur, Derya; Boostani, Reza; Karimiani, Ehs...
Journal:
Human mutation
Issue:
Volume 39:Issue 9(2018)
Page Start:
1284
Record Type:
Journal Article
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7. 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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