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Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.
Published in:
2016
By:
- Picker-Minh, Sylvie;
- Mignot, Cyril;
- Doummar, Diane;
- Hashem, Mais;
- Faqeih, Eissa;
- Josset, Patrice;
- Dubern, Béatrice;
- Alkuraya, Fowzan S.;
- Kraemer, Nadine;
- Kaindl, Angela M.
Publication type:
Letter
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1822, doi. 10.1093/brain/awae010
By:
- Efthymiou, Stephanie;
- Scala, Marcello;
- Nagaraj, Vini;
- Ochenkowska, Katarzyna;
- Komdeur, Fenne L;
- Liang, Robin A;
- Abdel-Hamid, Mohamed S;
- Sultan, Tipu;
- Barøy, Tuva;
- Ghelue, Marijke Van;
- Vona, Barbara;
- Maroofian, Reza;
- Zafar, Faisal;
- Alkuraya, Fowzan S;
- Zaki, Maha S;
- Severino, Mariasavina;
- Duru, Kingsley C;
- Tryon, Robert C;
- Brauteset, Lin Vigdis;
- Ansari, Morad
Publication type:
Article
A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.
Published in:
2017
By:
- Shamseldin, Hanan E.;
- Alasmari, Ali;
- Salih, Mohammed A.;
- Samman, Manar M.;
- Mian, Shahid A.;
- Alshidi, Tarfa;
- Ibrahim, Niema;
- Hashem, Mais;
- Faqeih, Eissa;
- Al-Mohanna, Futwan;
- Alkuraay, Fowzan S.;
- Alkuraya, Fowzan S
Publication type:
journal article
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
Published in:
Human Genetics, 2024, v. 143, n. 6, p. 739, doi. 10.1007/s00439-024-02677-y
By:
- AlAbdi, Lama;
- Neuhann, Teresa;
- Prott, Eva-Christina;
- Schön, Ulrike;
- Abdulwahab, Firdous;
- Faqeih, Eissa;
- Alkuraya, Fowzan S.
Publication type:
Article
Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism.
Published in:
2024
By:
- Al Masseri, Zainab;
- Alqahtani, Mashael;
- Almoshawer, Eman;
- Alkuraya, Fowzan S.
Publication type:
Case Study
Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia.
Published in:
Human Genetics, 2024, v. 143, n. 2, p. 125, doi. 10.1007/s00439-023-02628-z
By:
- Abouelhoda, Mohamed;
- Almuqati, Noura;
- Abogosh, Ahmed;
- Alfraih, Feras;
- Maddirevula, Sateesh;
- Alkuraya, Fowzan S.
Publication type:
Article
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.
Published in:
Human Genetics, 2024, v. 143, n. 1, p. 59, doi. 10.1007/s00439-023-02621-6
By:
- Alshammari, Muneera J.;
- Shamseldin, Hanan E.;
- Essbaiheen, Fahad;
- Eltahir, Sara H.;
- Alruwaili, Ashwag R.;
- Abdulwahab, Firdous;
- Alkuraya, Fowzan S.
Publication type:
Article
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Published in:
Human Genetics, 2023, v. 142, n. 10, p. 1491, doi. 10.1007/s00439-023-02597-3
By:
- Shamseldin, Hanan E.;
- Sadagopan, Mukunth;
- Martini, Javier;
- Al-Ali, Ruslan;
- Radefeldt, Mandy;
- Ataei, Mojgan;
- Lemke, Sabrina;
- Rahbeeni, Zuhair;
- Al Mutairi, Fuad;
- Ababneh, Faroug;
- AlRukban, Hadeel A.;
- Abdulwahab, Firdous;
- Alhajj, Saleh Mohammed;
- Bauer, Peter;
- Bertoli-Avella, Aida;
- Alkuraya, Fowzan S.
Publication type:
Article
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
Published in:
Human Genetics, 2023, v. 142, n. 4, p. 477, doi. 10.1007/s00439-023-02527-3
By:
- Shamseldin, Hanan E.;
- Derar, Nada;
- Alzaidan, Hamad;
- AlHathal, Naif;
- Alfalah, Abdullah;
- Abdulwahab, Firdous;
- Alzaid, Tariq;
- Alkeraye, Salim;
- Alobaida, Saud A.;
- Alkuraya, Fowzan S.
Publication type:
Article
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 399, doi. 10.1007/s00439-022-02513-1
By:
- Almannai, Mohammed;
- AlAbdi, Lama;
- Maddirevula, Sateesh;
- Alotaibi, Maha;
- Alsaleem, Badr M.;
- Aljadhai, Yaser I.;
- Alsaif, Hessa S.;
- Abukhalid, Musaad;
- Alkuraya, Fowzan S
Publication type:
Article
PMEL is mutated in oculocutaneous albinism.
Published in:
Human Genetics, 2023, v. 142, n. 1, p. 139, doi. 10.1007/s00439-022-02489-y
By:
- AlAbdi, Lama;
- Alshammari, Muneera;
- Helaby, Rana;
- Khan, Arif O.;
- Alkuraya, Fowzan S.
Publication type:
Article
Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.
Published in:
2022
By:
- Maddirevula, Sateesh;
- Alameer, Seham;
- Ewida, Nour;
- de Sousa, Mirta Mittelstedt Leal;
- Bjørås, Magnar;
- Vågbø, Cathrine Broberg;
- Alkuraya, Fowzan S
Publication type:
Case Study
Mitochondrial "dysmorphology" in variant classification.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 55, doi. 10.1007/s00439-021-02378-w
By:
- Shamseldin, Hanan E.;
- Alhashem, Amal;
- Tabarki, Brahim;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Sougrat, Rachid;
- Alkuraya, Fowzan S.
Publication type:
Article
ASTL is mutated in female infertility.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 49, doi. 10.1007/s00439-021-02388-8
By:
- Maddirevula, Sateesh;
- Coskun, Serdar;
- Al-Qahtani, Mashael;
- Aboyousef, Omar;
- Alhassan, Saad;
- Aldeery, Meshael;
- Alkuraya, Fowzan S.
Publication type:
Article
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
Published in:
Human Genetics, 2021, v. 140, n. 9, p. 1395, doi. 10.1007/s00439-021-02321-z
By:
- Alsaif, Hessa S.;
- Al Ali, Hatoon;
- Faqeih, Eissa;
- Ramadan, Sahar M.;
- Barth, Magalie;
- Colin, Estelle;
- Prouteau, Clément;
- Bonneau, Dominique;
- Ziegler, Alban;
- Alkuraya, Fowzan S.
Publication type:
Article
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Published in:
Human Genetics, 2020, v. 139, n. 10, p. 1273, doi. 10.1007/s00439-020-02170-2
By:
- Shamseldin, Hanan E.;
- Al Mogarri, Ibrahim;
- Alqwaiee, Mansour M.;
- Alharbi, Adel S.;
- Baqais, Khaled;
- AlSaadi, Muslim;
- AlAnzi, Talal;
- Alhashem, Amal;
- Saghier, Afaf;
- Ameen, Waleed;
- Ibrahim, Niema;
- Yang, Jason;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Chivukula, Raghu R.;
- Alkuraya, Fowzan S.
Publication type:
Article
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1628
By:
- Khan, Arif O.;
- AlAbdi, Lama;
- Patel, Nisha;
- Helaby, Rana;
- Hashem, Mais;
- Abdulwahab, Firdous;
- AlBadr, Fahad B.;
- Alkuraya, Fowzan S.
Publication type:
Article
Genomic medicine in the Middle East.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-01003-9
By:
- Abou Tayoun, Ahmad N.;
- Fakhro, Khalid A.;
- Alsheikh-Ali, Alawi;
- Alkuraya, Fowzan S.
Publication type:
Article
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63713
By:
- Peduto, Cristina;
- Cappuccio, Gerarda;
- Zeuli, Roberta;
- Zanobio, Mariateresa;
- Torella, Annalaura;
- Alkuraya, Fowzan S.;
- Joss, Shelagh;
- Daolio, Cecilia;
- Spinelli, Alessandro Mauro;
- Zampieri, Stefania;
- Nigro, Vincenzo;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Further clinical delineation of microcephaly‐capillary malformation syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3350, doi. 10.1002/ajmg.a.62936
By:
- Postma, Julianne K.;
- Zambonin, Jessica L.;
- Khouj, Ebtissal;
- Alyamani, Suad;
- Graham, John M.;
- Alkuraya, Fowzan S.;
- Kundell, Stephen;
- Carter, Melissa T.
Publication type:
Article
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2932, doi. 10.1002/ajmg.a.62894
By:
- Altassan, Ruqaiah;
- Qudair, Ahmad;
- Alokaili, Riyadh;
- Alhasan, Khalid;
- Faqeih, Eissa A.;
- Alhashem, Amal;
- Alowain, Muhammed;
- Alsayed, Moeanaldeen;
- Rahbeeni, Zuhair;
- Albadi, Lama;
- Alkuraya, Fowzan S.;
- Anderson, Eric N.;
- Rajan, Deepa;
- Pandey, Udai Bhan
Publication type:
Article
PLXNA2 as a candidate gene in patients with intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3859, doi. 10.1002/ajmg.a.62440
By:
- Altuame, Fadie D.;
- Shamseldin, Hanan E.;
- Albatti, Turki H.;
- Hashem, Mais;
- Ewida, Nour;
- Abdulwahab, Firdous;
- Alkuraya, Fowzan S.
Publication type:
Article
Hoarse voice in children as the presenting feature of ECM1‐related lipoid proteinosis.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3924, doi. 10.1002/ajmg.a.62406
By:
- Patel, Nisha;
- Nabil, Amira;
- Alshammari, Muneera;
- Alkuraya, Fowzan S.
Publication type:
Article
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2789, doi. 10.1002/ajmg.a.61876
By:
- Abualsaud, Dalia;
- Hashem, Mais;
- AlHashem, Amal;
- Alkuraya, Fowzan S.
Publication type:
Article
Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2136, doi. 10.1002/ajmg.a.62194
By:
- Hildebrandt, Clara C.;
- Patel, Nisha;
- Graham, John M.;
- Bamshad, Michael;
- Nickerson, Deborah A.;
- White, Janson J.;
- Marvin, Colby T.;
- Miller, Danny E.;
- Grand, Katheryn L.;
- Sanchez‐Lara, Pedro A.;
- Schweitzer, Daniela;
- Al‐Zaidan, Hamad I.;
- Al Masseri, Zainab;
- Alkuraya, Fowzan S.;
- Lin, Angela E.
Publication type:
Article
MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2131, doi. 10.1002/ajmg.a.62188
By:
- Alsaif, Hessa S.;
- Alshehri, Ali;
- Sulaiman, Raashda A.;
- Al‐Hindi, Hindi;
- Guzmán‐Vega, Francisco J.;
- Arold, Stefan T.;
- Alkuraya, Fowzan S.
Publication type:
Article
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1649, doi. 10.1002/ajmg.a.62124
By:
- Sheppard, Sarah E.;
- Campbell, Ian M.;
- Harr, Margaret H.;
- Gold, Nina;
- Li, Dong;
- Bjornsson, Hans T.;
- Cohen, Julie S.;
- Fahrner, Jill A.;
- Fatemi, Ali;
- Harris, Jacqueline R.;
- Nowak, Catherine;
- Stevens, Cathy A.;
- Grand, Katheryn;
- Au, Margaret;
- Graham, John M.;
- Sanchez‐Lara, Pedro A.;
- Campo, Miguel Del;
- Jones, Marilyn C.;
- Abdul‐Rahman, Omar;
- Alkuraya, Fowzan S.
Publication type:
Article
Further delineation of SMG9‐related heart and brain malformation syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1624, doi. 10.1002/ajmg.a.62139
By:
- Altuwaijri, Norah;
- Abdelbaky, Mona;
- Alhashem, Amal;
- Alrakaf, Maha;
- Hashem, Mais;
- Alzahrani, Fatema;
- Alkuraya, Fowzan S.
Publication type:
Article
Confirming the involvement of PIEZO2 in the etiology of Marden–Walker syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 945, doi. 10.1002/ajmg.a.62052
By:
- Seidahmed, Mohammed Zain;
- Maddirevula, Sateesh;
- Miqdad, Abeer M.;
- Al Faifi, Abdullah;
- Al Samadi, Abdulmohsen;
- Alkuraya, Fowzan S.
Publication type:
Article
A de novo ATXN2L variant in a child with developmental delay and macrocephaly.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 949, doi. 10.1002/ajmg.a.62007
By:
- Alzahrani, Fatema;
- Albatti, Turki H.;
- Alkuraya, Fowzan S.
Publication type:
Article
Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 604, doi. 10.1002/ajmg.a.61990
By:
- Alsaif, Hessa S.;
- Khashab, Heba Youssef E. L.;
- Alkuraya, Fowzan S.
Publication type:
Article
Further delineation of MYO18B‐related autosomal recessive Klippel‐Feil syndrome with myopathy and facial dysmorphism.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 370, doi. 10.1002/ajmg.a.61957
By:
- Altuame, Fadie D.;
- Haldeman‐Englert, Chad;
- Cupler, Edward;
- Al Muhaizea, Mohammad A.;
- Al‐Zaidan, Hamad I.;
- Hashem, Mais;
- Alkuraya, Fowzan S.
Publication type:
Article
Further delineation of HIDEA syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2999, doi. 10.1002/ajmg.a.61885
By:
- Maddirevula, Sateesh;
- Ben‐Omran, Tawfeg;
- AlMureikhi, Mariam;
- Eyaid, Wafa;
- Arabi, Hisham;
- Alkuraya, Hisham;
- Alfaifi, Abdullah;
- Alfalah, Abdullah Hamed;
- Alsaif, Hessa S.;
- Abdulwahab, Firdous;
- Alfadhel, Majid;
- Alkuraya, Fowzan S.
Publication type:
Article
Confirming TBC1D32‐related ciliopathy in humans.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1985, doi. 10.1002/ajmg.a.61717
By:
- Alsahan, Nada;
- Alkuraya, Fowzan S.
Publication type:
Article
Phenotypic expansion of OTUD6B‐related syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1530, doi. 10.1002/ajmg.a.61548
By:
- Alkuraya, Fowzan S.
Publication type:
Article
Further delineation of METTL23‐associated intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 785, doi. 10.1002/ajmg.a.61503
By:
- Almannai, Mohammed;
- Obaid, Osama;
- Faqeih, Eissa;
- Alasmari, Ali;
- Samman, Manar M.;
- Pinz, Hailey;
- Braddock, Stephen R.;
- Alkuraya, Fowzan S.
Publication type:
Article
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 513, doi. 10.1002/ajmg.a.61450
By:
- Mendelsohn, Bryce A.;
- Beleford, Daniah T.;
- Abu‐El‐Haija, Aya;
- Alsaleh, Norah S.;
- Rahbeeni, Zuhair;
- Martin, Pierre‐Marie;
- Rego, Shannon;
- Huang, Alyssa;
- Capodanno, Gina;
- Shieh, Joseph T.;
- Van Ziffle, Jessica;
- Risch, Neil;
- Alkuraya, Fowzan S.;
- Slavotinek, Anne M.
Publication type:
Article
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1543, doi. 10.1002/ajmg.a.61266
By:
- Carter, Lauren B.;
- Battaglia, Agatino;
- Cherry, Athena;
- Manning, Melanie A.;
- Ruzhnikov, Maura RZ;
- Bird, Lynne M.;
- Dowsett, Leah;
- Graham, John M.;
- Alkuraya, Fowzan S.;
- Hashem, Mais;
- Dinulos, Mary Beth;
- Vallee, Stephanie;
- Adam, Margaret P.;
- Glass, Ian;
- Beck, Anita E.;
- Stevens, Cathy A.;
- Zackai, Elaine;
- McDougall, Carey;
- Keena, Beth;
- Peron, Angela
Publication type:
Article
Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1053, doi. 10.1002/ajmg.a.61133
By:
- Abdel‐Salam, Ghada M. H.;
- Mazen, Inas;
- Eid, Maha;
- Ewida, Nour;
- Shaheen, Ranad;
- Alkuraya, Fowzan S.
Publication type:
Article
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 927, doi. 10.1002/ajmg.a.61126
By:
- Al‐Dewik, Nader;
- Mohd, Howaida;
- Al‐Mureikhi, Mariam;
- Ali, Rehab;
- Al‐Mesaifri, Fatma;
- Mahmoud, Laila;
- Shahbeck, Noora;
- El‐Akouri, Karen;
- Almulla, Mariam;
- Al Sulaiman, Reem;
- Musa, Sara;
- Al‐Marri, Ajayeb Al‐Nabet;
- Richard, Gabriele;
- Juusola, Jane;
- Solomon, Benjamin D.;
- Alkuraya, Fowzan S.;
- Ben‐Omran, Tawfeg
Publication type:
Article
Cenani–Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 266, doi. 10.1002/ajmg.a.60694
By:
- Al‐Qattan, Mohammad M.;
- Alkuraya, Fowzan S.
Publication type:
Article
Warsaw breakage syndrome: Further clinical and genetic delineation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2404, doi. 10.1002/ajmg.a.40482
By:
- Alkhunaizi, Ebba;
- Shaheen, Ranad;
- Bharti, Sanjay Kumar;
- Joseph‐George, Ann M.;
- Chong, Karen;
- Abdel‐Salam, Ghada M. H.;
- Alowain, Mohammed;
- Blaser, Susan I.;
- Papsin, Blake C.;
- Butt, Mohammed;
- Hashem, Mais;
- Martin, Nicole;
- Godoy, Ruth;
- Brosh, Robert M.;
- Alkuraya, Fowzan S.;
- Chitayat, David
Publication type:
Article
Elsahy–Waters syndrome is caused by biallelic mutations in <italic>CDH11</italic>.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 477, doi. 10.1002/ajmg.a.38568
By:
- Harms, Frederike L.;
- Nampoothiri, Sheela;
- Anazi, Shams;
- Yesodharan, Dhanya;
- Alawi, Malik;
- Kutsche, Kerstin;
- Alkuraya, Fowzan S.
Publication type:
Article
Congenital disorders of glycosylation: The Saudi experience.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2614, doi. 10.1002/ajmg.a.38358
By:
- Alsubhi, Sarah;
- Alhashem, Amal;
- Faqeih, Eissa;
- Alfadhel, Majid;
- Alfaifi, Abdullah;
- Altuwaijri, Waleed;
- Alsahli, Saud;
- Aldhalaan, Hesham;
- Alkuraya, Fowzan S.;
- Hundallah, Khalid;
- Mahmoud, Adel;
- Alasmari, Ali;
- Mutairi, Fuad Al;
- Abduraouf, Hanem;
- AlRasheed, Layan;
- Alshahwan, Saad;
- Tabarki, Brahim
Publication type:
Article
Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2439, doi. 10.1002/ajmg.a.38336
By:
- Al‐Qattan, Mohammad M.;
- Shaheen, Ranad;
- Alkuraya, Fowzan S.
Publication type:
Article
Joint Laxity in Homozygotes for Severe POU1F1 Mutations.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3356, doi. 10.1002/ajmg.a.37941
By:
- Shamseldin, Hanan E.;
- Maddirevula, Sateesh;
- Nabil, Amira;
- Al‐Fadhil, Saeed;
- Al Tala, Saeed;
- Alkuraya, Fowzan S.
Publication type:
Article
The Syndrome of Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly and Lissencephaly (DREAM-PL): Report of Two Additional Patients.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3222, doi. 10.1002/ajmg.a.37877
By:
- Shaheen, Ranad;
- Al‐Salam, Zakariya;
- El‐Hattab, Ayman W.;
- Alkuraya, Fowzan S.
Publication type:
Article
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2219, doi. 10.1002/ajmg.a.37768
By:
- Seidahmed, Mohammed Zain;
- Salih, Mustafa A.;
- Abdelbasit, Omer Bashir;
- Alassiri, Ali H.;
- Hussein, Khalid Al;
- Miqdad, Abeer;
- Samadi, Abdelmohsin;
- Rasheed, Abdallah Al;
- Alorainy, Ibrahim A.;
- Shaheen, Ranad;
- Alkuraya, Fowzan S.
Publication type:
Article
Novel copy number variants and major limb reduction malformation: Report of three cases.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1245, doi. 10.1002/ajmg.a.37550
By:
- Shamseldin, Hanan E.;
- Anazi, Shams;
- Wakil, Salma M.;
- Faqeih, Eissa;
- El Khashab, Heba Y.;
- Salih, Mustafa A.;
- Al‐Qattan, Mohammad M.;
- Hashem, Mais;
- Alsedairy, Haifa;
- Alkuraya, Fowzan S.
Publication type:
Article
ADAT3-related intellectual disability: Further delineation of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1142, doi. 10.1002/ajmg.a.37578
By:
- El‐Hattab, Ayman W.;
- Saleh, Mohammed A.;
- Hashem, Amal;
- Al‐Owain, Mohammed;
- Asmari, Ali Al;
- Rabei, Hala;
- Abdelraouf, Hanem;
- Hashem, Mais;
- Alazami, Anas M.;
- Patel, Nisha;
- Shaheen, Ranad;
- Faqeih, Eissa A.;
- Alkuraya, Fowzan S.
Publication type:
Article

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