Works matching AU Monies, Dorota

Results: 43

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.

Published in:

Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00351-2

By:

Abouelhoda, Mohamed;
Mohty, Dania;
Alayary, Islam;
Meyer, Brian F.;
Arold, Stefan T.;
Fadel, Bahaa M.;
Monies, Dorota

Publication type:

Article

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Published in:

Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0124-4

By:

Alsemari, Abdulaziz;
Al-Younes, Banan;
Goljan, Ewa;
Jaroudi, Dyala;
BinHumaid, Faisal;
Meyer, Brian F.;
Arold, Stefan T.;
Monies, Dorota

Publication type:

Article

Identification of a novel genetic locus underlying tremor and dystonia.

Published in:

Human Genomics, 2017, v. 11, p. 1, doi. 10.1186/s40246-017-0123-5

By:

Monies, Dorota;
Al-Shaar, Hussam Abou;
Goljan, Ewa A.;
Al-Younes, Banan;
Al-Breacan, Muna Monther Abdullah;
Al-Saif, Maher Mohammed;
Wakil, Salma M.;
Meyer, Brian F.

Publication type:

Article

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

Published in:

Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0089-8

By:

Monies, Dorota;
Alhindi, Hindi N.;
Almuhaizea, Mohamed A.;
Abouelhoda, Mohamed;
Alazami, Anas M.;
Goljan, Ewa;
Alyounes, Banan;
Jaroudi, Dyala;
AlIssa, Abdulelah;
Alabdulrahman, Khalid;
Subhani, Shazia;
El-Kalioby, Mohamed;
Faquih, Tariq;
Wakil, Salma M.;
Altassan, Nada A.;
Meyer, Brian F.;
Bohlega, Saeed

Publication type:

Article

Expanding Phenotypic and Allelic Heterogeneity of Tricho-Hepato-Enteric Syndrome.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. 352, doi. 10.1097/MPG.0000000000000627

By:

Monies, Dorota M.;
Rahbeeni, Zuhair;
Abouelhoda, Mohamed;
Naim, Ewa A.;
Al-Younes, Banan;
Meyer, Brian F.;
Al-Mehaidib, Ali

Publication type:

Article

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.580484

By:

Maddirevula, Sateesh;
Shamseldin, Hanan E.;
Sirr, Amy;
AlAbdi, Lama;
Lo, Russell S.;
Ewida, Nour;
Al-Qahtani, Mashael;
Hashem, Mais;
Abdulwahab, Firdous;
Aboyousef, Omar;
Kaya, Namik;
Monies, Dorota;
Salem, May H.;
Al Harbi, Naffaa;
Aldhalaan, Hesham M.;
Alzaidan, Hamad;
Almanea, Hadeel M.;
Alsalamah, Abrar K.;
Al Mutairi, Fuad;
Ismail, Samira

Publication type:

Article

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Published in:

Genome Biology, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s13059-020-02053-9

By:

Maddirevula, Sateesh;
Kuwahara, Hiroyuki;
Ewida, Nour;
Shamseldin, Hanan E.;
Patel, Nisha;
Alzahrani, Fatema;
AlSheddi, Tarfa;
AlObeid, Eman;
Alenazi, Mona;
Alsaif, Hessa S.;
Alqahtani, Maha;
AlAli, Maha;
Al Ali, Hatoon;
Helaby, Rana;
Ibrahim, Niema;
Abdulwahab, Firdous;
Hashem, Mais;
Hanna, Nadine;
Monies, Dorota;
Derar, Nada

Publication type:

Article

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Published in:

PLoS ONE, 2022, v. 17, n. 1, p. 1, doi. 10.1371/journal.pone.0263137

By:

Goljan, Ewa;
Abouelhoda, Mohammed;
ElKalioby, Mohamed M.;
Jabaan, Amjad;
Alghithi, Nada;
Meyer, Brian F.;
Monies, Dorota

Publication type:

Article

Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype.

Published in:

Clinical Genetics, 2021, v. 99, n. 5, p. 724, doi. 10.1111/cge.13932

By:

Al‐Bakheet, Albandary;
Tohary, Mohamed;
Khan, Sameena;
Chedrawi, Aziza;
Edrees, Alaa;
Tous, Ehab;
Al‐Mousa, Hamoud;
Al‐Otaibi, Lefian;
AlShahrani, Saif;
Alsagob, Maysoon;
Al‐Quait, Laila;
Almass, Rawan;
Al‐Joudi, Haya;
Monies, Dorota;
Al‐Semari, Abdulaziz;
Aldosary, Mazhor;
Daghestani, Maha;
Colak, Dilek;
Kaya, Namik;
Al‐Owain, Mohammed

Publication type:

Article

PLACK syndrome is potentially treatable with intralipids.

Published in:

Clinical Genetics, 2021, v. 99, n. 4, p. 572, doi. 10.1111/cge.13919

By:

Sawan, Zinab A.;
Almehaidib, Ali;
Binamer, Yousef;
Monies, Dorota;
Alsaleem, Khalid A.;
Aldekhail, Wajeeh;
Alkuraya, Fowzan S.;
Abanemai, Mohammed

Publication type:

Article

Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature.

Published in:

BMC Research Notes, 2009, v. 2, p. 1, doi. 10.1186/1756-0500-2-48

By:

Alsmadi, Osama;
Alkayal, Fadi;
Monies, Dorota;
Meyer, Brian F.

Publication type:

Article

High Incidence of Severe Combined Immunodeficiency Diseases in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00782

By:

Al-Mousa, Hamoud;
Al-Dakheel, Ghadah;
Jabr, Amal;
Elbadaoui, Fahd;
Abouelhoda, Mohamed;
Baig, Mansoor;
Monies, Dorota;
Meyer, Brian;
Hawwari, Abbas;
Dasouki, Majed

Publication type:

Article

A novel deletion of the MEN1 gene in a large family of multiple endocrine neoplasia type 1 (MEN1) with aggressive phenotype.

Published in:

Clinical Endocrinology, 2011, v. 75, n. 6, p. 791, doi. 10.1111/j.1365-2265.2011.04134.x

By:

Raef, Hussein;
Zou, Minjing;
Baitei, Essa Y.;
Al-Rijjal, Roua A.;
Kaya, Namik;
Al-Hamed, Mohamed;
Monies, Dorota;
Abu-Dheim, Nada N.;
Al-Hindi, Hindi;
Al-Ghamdi, Mohammed H.;
Meyer, Brian F.;
Shi, Yufei

Publication type:

Article

Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population.

Published in:

Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00594-9

By:

Goljan, Ewa;
Abouelhoda, Mohammed;
Tahir, Asma;
ElKalioby, Mohamed;
Meyer, Brian;
Monies, Dorota

Publication type:

Article

Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis.

Published in:

Arthritis & Rheumatology, 2015, v. 67, n. 1, p. 288, doi. 10.1002/art.38877

By:

Wakil, Salma M.;
Monies, Dorota M.;
Abouelhoda, Mohamed;
Al‐Tassan, Nada;
Al‐Dusery, Haya;
Naim, Ewa A.;
Al‐Younes, Banan;
Shinwari, Jameela;
Al‐Mohanna, Futwan A.;
Meyer, Brian F.;
Al‐Mayouf, Sulaiman

Publication type:

Article

The clinical utility of rapid exome sequencing in a consanguineous population.

Published in:

Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01192-5

By:

Monies, Dorota;
Goljan, Ewa;
Rapid Exome Consortium;
Binmanee, Abdulaziz Mohammed;
Alashwal, Abdullah Ali Zafir;
Alsonbul, Abdullah Mohammed;
Alhussaini, Abdulrahman A.;
Abdallah, Alahmari Ali;
Albenmousa, Ali Hussain;
Almehaidib, Ali Ibrahim;
Hassan, Ali Syed Akhtarul;
Alharbi, Amal Salman Alseraihy;
Alhabib, Amro;
Podda, Antonello;
Alsaleem, Badr;
Al Saud, Bandar Bin Khalid;
Bin Abbas, Bassam Saleh;
Faqeih, Eissa Ali;
Aljofan, Fahad Badei;
Alhazzani, Fahad Naser

Publication type:

Article

Familial Clustering of Juvenile Psoriatic Arthritis Associated with a Hemizygous FOXP3 Mutation.

Published in:

Current Rheumatology Reports, 2021, v. 23, n. 8, p. 1, doi. 10.1007/s11926-021-01026-6

By:

Alzyoud, Raed;
Alansari, Shahad;
Maaitah, Heba;
AlDossari, Haya;
Monies, Dorota;
Al-Mayouf, Sulaiman M

Publication type:

Article

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.

Published in:

NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0079-6

By:

Owaidah, Tarek;
Saleh, Mahasen;
Baz, Batoul;
Abdulaziz, Basma;
Alzahrani, Hazza;
Tarawah, Ahmed;
Almusa, Abdulrahman;
AlNounou, Randa;
AbaAlkhail, Hala;
Al-Numair, Nouf;
Altahan, Rahaf;
Abouelhoda, Mohammed;
Alamoudi, Thamer;
Monies, Dorota;
Jabaan, Amjad;
Al Tassan, Nada

Publication type:

Article

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.

Published in:

NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0079-6

By:

Owaidah, Tarek;
Saleh, Mahasen;
Baz, Batoul;
Abdulaziz, Basma;
Alzahrani, Hazza;
Tarawah, Ahmed;
Almusa, Abdulrahman;
AlNounou, Randa;
AbaAlkhail, Hala;
Al-Numair, Nouf;
Altahan, Rahaf;
Abouelhoda, Mohammed;
Alamoudi, Thamer;
Monies, Dorota;
Jabaan, Amjad;
Tassan, Nada Al

Publication type:

Article

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40102-x

By:

Yemni, Eman Al;
Monies, Dorota;
Alkhairallah, Thamer;
Bohlega, Saeed;
Abouelhoda, Mohamed;
Magrashi, Amna;
Mustafa, Abeer;
AlAbdulaziz, Basma;
Alhamed, Mohamed;
Baz, Batoul;
Goljan, Ewa;
Albar, Renad;
Jabaan, Amjad;
Faquih, Tariq;
Subhani, Shazia;
Ali, Wafa;
Shinwari, Jameela;
Al-Mubarak, Bashayer;
Al-Tassan, Nada

Publication type:

Article

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

Published in:

2013

By:

Costa-Barbosa, Flavia Amanda;
Balasubramanian, Ravikumar;
Keefe, Kimberly W;
Shaw, Natalie D;
Al-Tassan, Nada;
Plummer, Lacey;
Dwyer, Andrew A;
Buck, Cassandra L;
Choi, Jin-Ho;
Seminara, Stephanie B;
Quinton, Richard;
Monies, Dorota;
Meyer, Brian;
Hall, Janet E;
Pitteloud, Nelly;
Crowley Jr, William F;
Crowley, William F Jr

Publication type:

journal article

β1 Integrin is essential for fascin‐mediated breast cancer stem cell function and disease progression.

Published in:

International Journal of Cancer, 2019, v. 145, n. 3, p. 830, doi. 10.1002/ijc.32183

By:

Barnawi, Rayanah;
Al‐Khaldi, Samiyah;
Colak, Dilek;
Tulbah, Asma;
Al‐Tweigeri, Taher;
Fallatah, Mohannad;
Monies, Dorota;
Ghebeh, Hazem;
Al‐Alwan, Monther

Publication type:

Article

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation.

Published in:

Acta Myologica, 2018, v. 37, n. 3, p. 221

By:

BOHLEGA, SAEED A.;
ALFAWAZ, SARAH;
ABOU-AL-SHAAR, HUSSAM;
AL-HINDI, HINDI N.;
MURAD, HATEM N.;
BOHLEGA, MOHAMED S.;
MEYER, BRIAN F.;
MONIES, DOROTA

Publication type:

Article

SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease.

Published in:

2021

By:

Al-Saud, Bandar;
Hazzazi, Khaled M.;
Mohammed, Reem;
Al Najjar, Alaa;
Al Hazmi, Tariq;
Monies, Dorota;
Alkuraya, Fowzan S.

Publication type:

Letter

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.

Published in:

Human Genetics, 2022, v. 141, n. 1, p. 101, doi. 10.1007/s00439-021-02406-9

By:

Al-Hamed, Mohamed H.;
Kurdi, Wesam;
Khan, Rubina;
Tulbah, Maha;
AlNemer, Maha;
AlSahan, Nada;
AlMugbel, Maisoon;
Rafiullah, Rafiullah;
Assoum, Mirna;
Monies, Dorota;
Shah, Zeeshan;
Rahbeeni, Zuhair;
Derar, Nada;
Hakami, Fahad;
Almutairi, Gawaher;
AlOtaibi, Afaf;
Ali, Wafaa;
AlShammasi, Amal;
AlMubarak, Wardah;
AlDawoud, Samia

Publication type:

Article

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Published in:

Human Genetics, 2017, v. 136, n. 8, p. 921, doi. 10.1007/s00439-017-1821-8

By:

Monies, Dorota;
Abouelhoda, Mohamed;
AlSayed, Moeenaldeen;
Alhassnan, Zuhair;
Alotaibi, Maha;
Kayyali, Husam;
Al-Owain, Mohammed;
Shah, Ayaz;
Rahbeeni, Zuhair;
Al-Muhaizea, Mohammad;
Alzaidan, Hamad;
Cupler, Edward;
Bohlega, Saeed;
Faqeih, Eissa;
Faden, Maha;
Alyounes, Banan;
Jaroudi, Dyala;
Goljan, Ewa;
Elbardisy, Hadeel;
Akilan, Asma

Publication type:

Article

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Published in:

Human Genetics, 2017, v. 136, n. 2, p. 205, doi. 10.1007/s00439-016-1747-6

By:

Patel, Nisha;
Anand, Deepti;
Monies, Dorota;
Maddirevula, Sateesh;
Khan, Arif;
Algoufi, Talal;
Alowain, Mohammed;
Faqeih, Eissa;
Alshammari, Muneera;
Qudair, Ahmed;
Alsharif, Hadeel;
Aljubran, Fatimah;
Alsaif, Hessa;
Ibrahim, Niema;
Abdulwahab, Firdous;
Hashem, Mais;
Alsedairy, Haifa;
Aldahmesh, Mohammed;
Lachke, Salil;
Alkuraya, Fowzan

Publication type:

Article

A null mutation in TNIK defines a novel locus for intellectual disability.

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 773, doi. 10.1007/s00439-016-1671-9

By:

Anazi, Shams;
Shamseldin, Hanan;
AlNaqeb, Dhekra;
Abouelhoda, Mohamed;
Monies, Dorota;
Salih, Mustafa;
Al-Rubeaan, Khalid;
Alkuraya, Fowzan

Publication type:

Article

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.

Published in:

Human Genetics, 2016, v. 135, n. 2, p. 193, doi. 10.1007/s00439-015-1624-8

By:

Shtir, Corina;
Aldahmesh, Mohammed;
Al-Dahmash, Saad;
Abboud, Emad;
Alkuraya, Hisham;
Abouammoh, Marwan A.;
Nowailaty, Sawsan R.;
Al-Thubaiti, Ghazai;
Naim, E.;
ALYounes, B.;
Binhumaid, F.;
ALOtaibi, A.;
Altamimi, A.;
Alamer, F.;
Hashem, Mais;
Abouelhoda, Mohamed;
Monies, Dorota;
Alkuraya, Fowzan

Publication type:

Article

Significant genetic differentiation between Poland and Germany follows present-day political borders, as revealed by Y-chromosome analysis.

Published in:

Human Genetics, 2005, v. 117, n. 5, p. 428, doi. 10.1007/s00439-005-1333-9

By:

Kayser, Manfred;
Lao, Oscar;
Anslinger, Katja;
Augustin, Christa;
Bargel, Grazyna;
Edelmann, Jeanett;
Elias, Sahar;
Heinrich, Marielle;
Henke, Jürgen;
Henke, Lotte;
Hohoff, Carsten;
Illing, Anett;
Jonkisz, Anna;
Kuzniar, Piotr;
Lebioda, Arleta;
Lessig, Rüdiger;
Lewicki, Slawomir;
Maciejewska, Agnieszka;
Monies, Dorota Marta;
Pawłowski, Ryszard

Publication type:

Article

Homogeneity and distinctiveness of Polish paternal lineages revealed by Y chromosome microsatellite haplotype analysis.

Published in:

Human Genetics, 2002, v. 110, n. 6, p. 592, doi. 10.1007/s00439-002-0728-0

By:

Ploski, Rafal;
Wozniak, Marcin;
Pawlowski, Ryszard;
Monies, Dorota;
Branicki, Wojciech;
Kupiec, Tomasz;
Kloosterman, Ate;
Dobosz, Tadeusz;
Bosch, Elena;
Nowak, Magdalena;
Lessig, Rüdiger;
Jobling, Mark A.;
Roewer, Lutz;
Kayser, Manfred

Publication type:

Article

Molecular classification of blood and bleeding disorder genes.

Published in:

NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00228-2

By:

Baz, Batoul;
Abouelhoda, Mohamed;
Owaidah, Tarek;
Dasouki, Majed;
Monies, Dorota;
Al Tassan, Nada

Publication type:

Article

Higher PD-L1 Immunohistochemical Detection Signal in Frozen Compared to Matched Paraffin-Embedded Formalin-Fixed Tissues.

Published in:

Antibodies (2073-4468), 2021, v. 10, n. 3, p. 24, doi. 10.3390/antib10030024

By:

Ghebeh, Hazem;
Mansour, Fatmah A.;
Colak, Dilek;
Alfuraydi, Akram A.;
Al-Thubiti, Amal A.;
Monies, Dorota;
Al-Alwan, Monther;
Al-Tweigeri, Taher;
Tulbah, Asma

Publication type:

Article

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.

Published in:

Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/9468049

By:

Wakil, Salma M.;
Monies, Dorota;
Hagos, Samya;
Al-Ajlan, Fahad;
Finsterer, Josef;
Al Qahtani, Aisha;
Ramzan, Khushnooda;
Al Humaidy, Rawan;
Al-Muhaizea, Mohamed A.;
Meyer, Brian;
Bohlega, Saeed A.

Publication type:

Article

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615

By:

Alrakaf, Laila;
Al‐Owain, Mohammed A.;
Busehail, Maryam;
Alotaibi, Maha A.;
Monies, Dorota;
Aldhalaan, Hesham M.;
Alhashem, Amal;
Al‐Hassnan, Zuhair N.;
Rahbeeni, Zuhair A.;
Murshedi, Fathiya Al;
Ani, Nadia Al;
Al‐Maawali, Almundher;
Ibrahim, Niema A.;
Abdulwahab, Firdous M.;
Alsagob, Maysoon;
Hashem, Mais O.;
Ramadan, Wafaa;
Abouelhoda, Mohamed;
Meyer, Brian F.;
Kaya, Namik

Publication type:

Article

Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 245, doi. 10.1002/ajmg.a.34347

By:

Alazami, Anas M.;
Monies, Dorota;
Meyer, Brian F.;
Alzahrani, Fatema;
Hashem, Mais;
Salih, Mustafa A.;
Alkuraya, Fowzan S.

Publication type:

Article

O4 Familial juvenile idiopathic arthritis: clinical features and localization to chromosome 13q

Published in:

2007

By:

Al Mayouf Sulaiman, M;
Salma, M Wakil;
Rana, Al-Amr;
Osama, Alsmadi;
Dorota, Monies;
Brian, F Meyer

Publication type:

Abstract

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

Published in:

2018

By:

Nahorski, Michael S.;
Maddirevula, Sateesh;
Ryosuke Ishimura;
Alsahli, Saud;
Brady, Angela F.;
Begemann, Anaïs;
Tsunehiro Mizushima;
Guzmán-Vega, Francisco J.;
Miki Obata;
Yoshinobu Ichimura;
Alsaif, Hessa S.;
Anazi, Shams;
Ibrahim, Niema;
Abdulwahab, Firdous;
Hashem, Mais;
Monies, Dorota;
Abouelhoda, Mohamed;
Meyer, Brian F.;
Alfadhel, Majid;
Eyaid, Wafa

Publication type:

journal article

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia.

Published in:

Frontiers in Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnins.2022.815556

By:

Alharbi, Norah;
Matar, Rawan;
Cupler, Edward;
Al-Hindi, Hindi;
Murad, Hatem;
Alhomud, Iftteah;
Monies, Dorota;
Alshehri, Ali;
Alyahya, Mossaed;
Meyer, Brian;
Bohlega, Saeed

Publication type:

Article

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

Published in:

BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-2102-7

By:

Bohlega, Saeed A.;
Al-Mubarak, Bashayer R.;
Alyemni, Eman A.;
Abouelhoda, Mohamed;
Monies, Dorota;
Mustafa, Abeer E.;
Khalil, Dania S.;
Al Haibi, Sara;
Abou Al-Shaar, Hussam;
Faquih, Tariq;
El-Kalioby, Mohamed;
Tahir, Asma I.;
Al Tassan, Nada A.

Publication type:

Article

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0629-2

By:

Kor, Yılmaz;
Zou, Minjing;
Al-Rijjal, Roua A.;
Monies, Dorota;
Meyer, Brian F.;
Shi, Yufei

Publication type:

Article

Identification of a novel MKS locus defined by TMEM107 mutation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 18, p. 5211, doi. 10.1093/hmg/ddv242

By:

Shaheen, Ranad;
Almoisheer, Agaadir;
Faqeih, Eissa;
Babay, Zainab;
Monies, Dorota;
Tassan, Nada;
Abouelhoda, Mohamed;
Kurdi, Wesam;
Al Mardawi, Elham;
Khalil, Mohamed M. I.;
Seidahmed, Mohammed Zain;
Alnemer, Maha;
Alsahan, Nada;
Sogaty, Samira;
Alhashem, Amal;
Singh, Ankur;
Goyal, Manisha;
Kapoor, Seema;
Alomar, Rana;
Ibrahim, Niema

Publication type:

Article

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.

Published in:

2016

By:

Winczewska-Wiktor, Anna;
Badura-Stronka, Magdalena;
Monies-Nowicka, Anna;
Maciej Nowicki, Michal;
Steinborn, Barbara;
Latos-Bieleńska, Anna;
Monies, Dorota;
Nowicki, Michal Maciej

Publication type:

journal article