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Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.
Published in:
Human Genetics, 2023, v. 142, n. 4, p. 543, doi. 10.1007/s00439-023-02528-2
By:
- Schnabel, Franziska;
- Schuler, Elisabeth;
- Al-Maawali, Almundher;
- Chaurasia, Ankur;
- Syrbe, Steffen;
- Al-Kindi, Adila;
- Bhavani, Gandham SriLakshmi;
- Shukla, Anju;
- Altmüller, Janine;
- Nürnberg, Peter;
- Banka, Siddharth;
- Girisha, Katta M.;
- Li, Yun;
- Wollnik, Bernd;
- Yigit, Gökhan
Publication type:
Article
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-22036-z
By:
- Al-Kasbi, Ghalia;
- Al-Murshedi, Fathiya;
- Al-Kindi, Adila;
- Al-Hashimi, Nadia;
- Al-Thihli, Khalid;
- Al-Saegh, Abeer;
- Al-Futaisi, Amna;
- Al-Mamari, Watfa;
- Al-Asmi, Abdullah;
- Bruwer, Zandre;
- Al-Kharusi, Khalsa;
- Al-Rashdi, Samiya;
- Zadjali, Fahad;
- Al-Yahyaee, Said;
- Al-Maawali, Almundher
Publication type:
Article
Further phenotypic delineation of Alazami syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2485, doi. 10.1002/ajmg.a.62778
By:
- Al‐Hinai, Abdulhamid;
- Al‐Hashmi, Samiya;
- Ganesh, Anuradha;
- Al‐Hashmi, Nadia;
- Al‐Saegh, Abeer;
- Al‐Mamari, Watfa;
- Al‐Murshedi, Fathiya;
- Al‐Thihli, Khalid;
- Al‐Kindi, Adila;
- Al‐Maawali, Almundher
Publication type:
Article
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
Published in:
Human Genetics, 2020, v. 139, n. 4, p. 513, doi. 10.1007/s00439-020-02117-7
By:
- Seidahmed, Mohammed Zain;
- Al-Kindi, Adila;
- Alsaif, Hessa S.;
- Miqdad, Abeer;
- Alabbad, Nasser;
- Alfifi, Abdallah;
- Abdelbasit, Omer Bashir;
- Alhussein, Khalid;
- Alsamadi, Abdulmohsen;
- Ibrahim, Niema;
- Al-Futaisi, Amna;
- Al-Maawali, Almundher;
- Alkuraya, Fowzan S.
Publication type:
Article
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Published in:
Clinical Genetics, 2018, v. 94, n. 6, p. 495, doi. 10.1111/cge.13438
By:
- Al‐Nabhani, Maryam;
- Al‐Rashdi, Samiya;
- Al‐Murshedi, Fathiya;
- Al‐Kindi, Adila;
- Al‐Thihli, Khalid;
- Al‐Saegh, Abeer;
- Al‐Futaisi, Amna;
- Al‐Mamari, Watfa;
- Zadjali, Fahad;
- Al‐Maawali, Almundher
Publication type:
Article
A novel mutation in DDR2 causing spondylo-metaepiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intracellular trafficking.
Published in:
BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-42
By:
- Al-Kindi, Adila;
- Kizhakkedath, Praseetha;
- Huifang Xu;
- John, Anne;
- Al Sayegh, Abeer;
- Ganesh, Anuradha;
- Al-Awadi, Maha;
- Al-Anbouri, Lamya;
- Al-Gazali, Lihadh;
- Leitinger, Birgit;
- Ali, Bassam R.
Publication type:
Article

Found: 6

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Further phenotypic delineation of Alazami syndrome.

Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.

A novel mutation in DDR2 causing spondylo-metaepiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intracellular trafficking.