Expanding the phenome and variome of skeletal dysplasia | Zendy

Sateesh Maddirevula | Zendy; Saud Alsahli | Zendy; Lamees Alhabeeb | Zendy; Nisha Patel | Zendy; Fatema Alzahrani | Zendy; Hanan E. Shamseldin | Zendy; Shams Anazi | Zendy; Nour Ewida | Zendy; Hessa S. Alsaif | Zendy; Jawahir Y. Mohamed | Zendy; Anas M. Alazami | Zendy; Niema Ibrahim | Zendy; Firdous Abdulwahab | Zendy; Mais Hashem | Zendy; Mohamed Abouelhoda | Zendy; Dorota Monies | Zendy; Nada Al Tassan | Zendy; Muneera J. Alshammari | Zendy; Afaf Alsagheir | Zendy; Mohammed Zain Seidahmed | Zendy; Samira Sogati | Zendy; Mona Aglan | Zendy; Muddathir H. Hamad | Zendy; Mustafa A. Salih | Zendy; Ahlam A. Hamed | Zendy; Nadia Alhashmi | Zendy; Amira Nabil | Zendy; Fatima Alfadli | Zendy; Ghada M. H. AbdelSalam | Zendy; Hisham Alkuraya | Zendy; Winnie Ong Peitee | Zendy; Wee Teik Keng | Zendy; Abdullah Qasem | Zendy; Aziza Mushiba | Zendy; Maha S. Zaki | Zendy; Mahmoud R. Fassad | Zendy; Majid Alfadhel | Zendy; Saji Alexander | Zendy; Yasser Sabr | Zendy; Samia A. Temtamy | Zendy; Alka V. Ekbote | Zendy; Samira Ismail | Zendy; Gamal Ahmed Hosny | Zendy; Ghada A. Otaify | Zendy; Khalda Amr | Zendy; Saeed Al Tala | Zendy; Arif O. Khan | Zendy; Tamer Rizk | Zendy; Aida I. AlAqeel | Zendy; Abdulmonem Alsiddiky | Zendy; Ankur Singh | Zendy; Seema Kapoor | Zendy; Amal Alhashem | Zendy; Eissa Faqeih | Zendy; Ranad Shaheen | Zendy; Fowzan S. Alkuraya | Zendy

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Expanding the phenome and variome of skeletal dysplasia

Author(s) -

Sateesh Maddirevula,

Saud Alsahli,

Lamees Alhabeeb,

Nisha Patel,

Fatema Alzahrani,

Hanan E. Shamseldin,

Shams Anazi,

Nour Ewida,

Hessa S. Alsaif,

Jawahir Y. Mohamed,

Anas M. Alazami,

Niema Ibrahim,

Firdous Abdulwahab,

Mais Hashem,

Mohamed Abouelhoda,

Dorota Monies,

Nada Al Tassan,

Muneera J. Alshammari,

Afaf Alsagheir,

Mohammed Zain Seidahmed,

Samira Sogati,

Mona Aglan,

Muddathir H. Hamad,

Mustafa A. Salih,

Ahlam A. Hamed,

Nadia Alhashmi,

Amira Nabil,

Fatima Alfadli,

Ghada M. H. AbdelSalam,

Hisham Alkuraya,

Winnie Ong Peitee,

Wee Teik Keng,

Abdullah Qasem,

Aziza Mushiba,

Maha S. Zaki,

Mahmoud R. Fassad,

Majid Alfadhel,

Saji Alexander,

Yasser Sabr,

Samia A. Temtamy,

Alka V. Ekbote,

Samira Ismail,

Gamal Ahmed Hosny,

Ghada A. Otaify,

Khalda Amr,

Saeed Al Tala,

Arif O. Khan,

Tamer Rizk,

Aida I. AlAqeel,

Abdulmonem Alsiddiky,

Ankur Singh,

Seema Kapoor,

Amal Alhashem,

Eissa Faqeih,

Ranad Shaheen,

Fowzan S. Alkuraya

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2018.50

Subject(s) - dysplasia , phenotype , genetics , locus (genetics) , exome sequencing , biology , cohort , disease , allele , gene , population , bioinformatics , medicine , pathology , environmental health

To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.

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