M. Suri
发表
Tomas W. Fitzgerald,
M. Hurles,
J. Barrett,
2014,
Nature.
M. Farrer,
I. Guella,
M. Demos,
2017,
American journal of human genetics.
Janet M Thornton,
Roman A Laskowski,
Caroline F Wright,
2017,
Molecular genetics & genomic medicine.
A. Dixit,
M. Suri,
2016,
Practical Neurology.
Alessandro,
G. J. Swaminathan,
A. Green,
2019
.
G. J. Swaminathan,
N. Carter,
M. Hurles,
2019,
American journal of human genetics.
F. Alkuraya,
M. Suri,
M. Barrios-Llerena,
2019,
American journal of human genetics.
M. Suri,
2005,
Seminars in fetal & neonatal medicine.
L. Lagae,
A. Vanderver,
K. Devriendt,
2015,
American journal of medical genetics. Part A.
A. Pagnamenta,
Jenny C. Taylor,
A. Fry,
2021,
Journal of Medical Genetics.
I. Krantz,
K. Devriendt,
H. Firth,
2005,
European journal of medical genetics.
L. Kiemeney,
L. Andrews,
R. Eeles,
2019,
European urology.
J. Clayton-Smith,
S. Smithson,
F. Munier,
2013,
Orphanet Journal of Rare Diseases.
Stephan J Sanders,
M. Suri,
I. Ross,
2003,
Postgraduate medical journal.
M. Suri,
G. Tanteles,
M. Christian,
2011,
Clinical dysmorphology.
N. Rahman,
D. Baralle,
C. Mercer,
2018,
Wellcome open research.
H. van Bokhoven,
R. Maroofian,
H. Houlden,
2022,
Annals of clinical and translational neurology.
R. Hennekam,
C. Antignac,
A. Kariminejad,
2010
.
M. Kabra,
M. Suri,
A. Gupta,
1995,
Indian pediatrics.
D. Grunwald,
J. Rendu,
A. Petiot,
2017,
Human mutation.
A. Vanderver,
R. Schiffmann,
D. Timmann,
2020,
The Journal of clinical endocrinology and metabolism.
A. Green,
E. Bongers,
R. Hennekam,
2015,
American journal of medical genetics. Part A.
O. Mäkitie,
G. Mortier,
L. Ala‐Kokko,
2004,
American journal of medical genetics. Part A.
R. Harrison,
S. Hulton,
K. Yates,
2012,
American Journal of Medical Genetics. Part A.
J. Hurst,
P. Clouston,
E. Giannoulatou,
2022,
bioRxiv.
M. Suri,
P. Vasudevan,
2017,
Clinical medicine.
M. Suri,
G. Tanteles,
2007
.
M. Suri,
2005
.
J. Goldblatt,
A. Dixit,
A. Sarkar,
2022,
Scientific Reports.
A. Need,
C. Tregidgo,
P. Furió-Tarí,
2020,
Genetics in Medicine.
M. Suri,
M. Hamilton,
2020,
Advances in genetics.
M. Suri,
P. Vasudevan,
G. Tanteles,
2012,
Clinical dysmorphology.
T. Jaspan,
M. Suri,
M. Cartmill,
2015,
Child's Nervous System.
L. Kiemeney,
L. Andrews,
R. Eeles,
2018
.
L. Samuelsson,
B. Isidor,
Toshiyuki Yamamoto,
2014,
Journal of Human Genetics.
Kaitlin M. Stouffer,
C. Woods,
M. Nahorski,
2018,
Journal of Medical Genetics.
M. Suri,
A. Sharma,
H. Sachdev,
1994,
Indian journal of pediatrics.
A. Bush,
M. Suri,
J. Bhatt,
2016,
Archives of Disease in Childhood.
M. Kabra,
M. Suri,
I. Verma,
1995,
Indian pediatrics.
A. Brady,
C. Hall,
M. Suri,
2004,
Pediatric Radiology.
Neil L. Aaronson,
L. Kiemeney,
L. Andrews,
2018,
British Journal of Cancer.
V. Sharma,
M. Suri,
S. Thirupuram,
1991,
Indian pediatrics.
V. Sharma,
M. Suri,
S. Thirupuram,
1991,
Indian pediatrics.
M. Suri,
2016,
The Indian Journal of Pediatrics.
W. Reardon,
C. Hall,
D. Duff,
2004,
Clinical dysmorphology.
A. Bush,
M. Suri,
J. Bhatt,
2016,
Archives of Disease in Childhood.
P. Gaffney,
N. Katsanis,
K. Wierenga,
2014,
Proceedings of the National Academy of Sciences.
I. Verma,
M. Suri,
A. Gupta,
1994,
Indian pediatrics.
Joan,
Caroline,
Rajan,
2017,
Nature.
Patrick J. Short,
M. Hurles,
L. Vissers,
2020,
Nature.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2016,
bioRxiv.
Joshua C Randall,
G. J. Swaminathan,
A. Green,
2019
.
R. Hennekam,
K. Boycott,
D. Bulman,
2016,
American journal of medical genetics. Part A.
M. Hurles,
R. Sandford,
D. Baralle,
2020,
Nature Communications.
V. Lefebvre,
R. Bökenkamp,
D. Barge-Schaapveld,
2022,
Journal of Medical Genetics.
S. Mundlos,
J. Mulliken,
A. Aylsworth,
1999,
American journal of human genetics.
M. Kabra,
M. Suri,
I. Verma,
1994,
American journal of medical genetics.
R. Kapoor,
M. Suri,
S. Ramji,
1990,
The British journal of radiology.
Steven J. M. Jones,
Shing Hei Zhan,
Clara DM van Karnebeek,
2014,
Orphanet Journal of Rare Diseases.
J. Clayton-Smith,
S. Bhaskar,
S. Nampoothiri,
2016,
American journal of medical genetics. Part A.
J. Morton,
M. Suri,
M. Del Campo,
2015,
Human mutation.
Charles E. Schwartz,
Eva Morava,
Denise Horn,
2003,
Nature Genetics.
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus
Y. Crow,
G. Rice,
M. Suri,
2011,
American journal of medical genetics. Part A.
R. Pfundt,
B. D. de Vries,
M. Bamshad,
2021,
medRxiv.
R. Grimalt,
C. Fischer,
O. Birk,
2022,
JAMA dermatology.
P. Jeggo,
K. Prescott,
G. Stewart,
2012,
PLoS genetics.
K. Chandler,
A. Dixit,
M. Suri,
2013,
The Journal of clinical endocrinology and metabolism.
T. Wieland,
T. Strom,
D. Wieczorek,
2017,
American journal of medical genetics. Part A.
I. Krantz,
V. Lefebvre,
C. Depienne,
2020,
American journal of human genetics.
M. Suri,
C. Garrett,
1998,
Clinical dysmorphology.
L. Kiemeney,
R. Eeles,
Z. Kote-Jarai,
2014,
European urology.
N. de Leeuw,
W. Reardon,
K. Devriendt,
2011,
American journal of medical genetics. Part A.
M. Suri,
V. Kalra,
B. Jailkhani,
1994,
Indian journal of pediatrics.
J. Rosenfeld,
E. Roeder,
J. Lupski,
2019,
Genome Medicine.
S. McKee,
S. McCullough,
A. Dixit,
2013,
Clinical genetics.
R. Eeles,
Z. Kote-Jarai,
F. Hamdy,
2021,
The Lancet. Oncology.
L. Brueton,
A. Brady,
M. Suri,
2009,
Clinical dysmorphology.
H. Brunner,
J. Hurst,
M. Digilio,
2021,
Genetics in Medicine.
W. Reardon,
J. Tolmie,
D. Fitzpatrick,
2007,
American journal of medical genetics. Part A.
A. V. Vulto-van Silfhout,
D. Baralle,
P. Striano,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
L. Bottolo,
P. Byrd,
A. Taylor,
2018,
Annals of neurology.
R. Hennekam,
C. Shaw-Smith,
F. Alkuraya,
2018,
Human mutation.
R. Hennekam,
C. Shaw-Smith,
F. Alkuraya,
2018
.
M. Suri,
M. Hamilton,
2019,
Advances in genetics.
W. Reardon,
J. Hurst,
R. Newbury-Ecob,
2016,
Clinical dysmorphology.
R. Møller,
C. Wallgren‐Pettersson,
M. Balasubramanian,
2018,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
J. Rosenfeld,
E. Roeder,
J. Lupski,
2023,
American journal of human genetics.
M. Suri,
S. Ramji,
S. Thirupuram,
1994,
Indian pediatrics.
R. Hennekam,
C. Shaw-Smith,
F. Alkuraya,
2020,
Journal of intellectual disability research : JIDR.
T. Hortobágyi,
F. Baas,
E. Aronica,
2014,
Orphanet Journal of Rare Diseases.
W. Reardon,
C. Fisher,
R. Gibbons,
2005,
American journal of medical genetics. Part A.
K. Yates,
K. Martin,
M. Suri,
2007,
Clinical dysmorphology.
K. Heimdal,
Soo-Mi Park,
H. Firth,
2017,
Journal of Medical Genetics.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
Nature Communications.
S. Gallati,
P. Itin,
P. Lapunzina,
2016,
Molecular genetics & genomic medicine.
P. Byrd,
M. Suri,
W. Whitehouse,
2016,
Developmental medicine and child neurology.
W. Reardon,
K. Devriendt,
J. Clayton-Smith,
2014,
European Journal of Human Genetics.
M. Suri,
Mohnish Suri,
2005,
Developmental medicine and child neurology.
M. Suri,
M. Witsch-Baumgartner,
K. Hinderhofer,
2015,
Clinical genetics.
J. Gécz,
C. Marshall,
M. Tarnopolsky,
2020,
Frontiers in Molecular Neuroscience.
R. Winter,
C. Hall,
M. Suri,
2002,
Clinical dysmorphology.
S. Joss,
M. Suri,
J. Bhattacharya,
2013,
Archives of Disease in Childhood.
N. Brunetti‐Pierri,
B. Dallapiccola,
A. Bruselles,
2020,
Clinical genetics.
S. Efthymiou,
F. Rahman,
R. Maroofian,
2022,
Journal of medical genetics.
Katherine M. Tucker,
L. Kiemeney,
H. Grönberg,
2011,
BJU international.
An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
D. Zafeiriou,
J. Celli,
J. D. den Dunnen,
2010,
Human mutation.
C. Ross,
M. Demos,
C. Shyr,
2014
.
J. Rosenfeld,
E. Roeder,
J. Lupski,
2019,
Genome Medicine.
J. Rosenfeld,
E. Roeder,
J. Lupski,
2019,
Genome Medicine.
O. Mäkitie,
G. Mortier,
L. Ala‐Kokko,
2004,
Journal of Medical Genetics.
C. Constantinescu,
M. Suri,
Srishti Gupta,
2020,
Neurological Therapeutics.
M. Suri,
2010,
Developmental medicine and child neurology.
A. Dixit,
K. Martin,
M. Suri,
2011,
Clinical dysmorphology.
Stephan J Sanders,
E. Grigorenko,
S. Mane,
2014,
European Journal of Human Genetics.
R. Dineen,
M. Suri,
C. Glazebrook,
2023,
Health expectations : an international journal of public participation in health care and health policy.
E. Cirillo,
C. Pignata,
P. Soler-Palacín,
2023,
Cancer medicine.
O. Mäkitie,
G. Mortier,
L. Ala‐Kokko,
2004
.
A. Green,
S. Robertson,
G. Mortier,
2006,
American journal of medical genetics. Part A.
Xia Lin,
Cris S. Constantinescu,
Xia Lin,
2007,
Journal of the Neurological Sciences.
M. Suri,
Madhulika,
Gurmeet Singh,
1993,
Indian journal of pediatrics.
Saskia M. J. Hopman,
L. Vissers,
R. Pfundt,
2023,
American journal of human genetics.
M. Indelman,
E. Sprecher,
J. Eason,
2007,
Clinical and experimental dermatology.
M. Kabra,
M. Suri,
A. Rattan,
1994,
Scandinavian journal of infectious diseases.
R. Stevenson,
C. Schwartz,
A. Wright,
2006,
American journal of medical genetics. Part A.
A. Need,
C. Tregidgo,
J. Clayton-Smith,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
M. Suri,
Madhulika,
Gurmeet Singh,
1993,
Indian journal of pediatrics.
M. Kabra,
M. Suri,
I. Verma,
1994,
American journal of medical genetics.
A. Dixit,
M. Suri,
G. Tanteles,
2013,
American Journal of Medical Genetics. Part A.
L. Brueton,
M. Suri,
N. Venkatraman,
2000,
Clinical dysmorphology.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
American journal of human genetics.
P. Gaffney,
N. Katsanis,
K. Wierenga,
2014,
Proceedings of the National Academy of Sciences.
J. Rosenfeld,
E. Roeder,
J. Lupski,
2019,
Genome Medicine.
N. Rahman,
D. Baralle,
C. Mercer,
2018,
Wellcome open research.
J. Clayton-Smith,
S. Bhaskar,
S. Nampoothiri,
2016,
American journal of medical genetics. Part A.
L. Kiemeney,
L. Andrews,
R. Eeles,
2018,
British Journal of Cancer.
J. Baptista,
J. Eason,
M. Suri,
2022,
European journal of medical genetics.
K. Martin,
M. Suri,
Katherine P. Yates,
2016,
Clinical dysmorphology.
R. Harrison,
S. Hulton,
A. Dixit,
2012,
American journal of medical genetics. Part A.
M. Suri,
2003,
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.